Variant Details

Variant: esv3613720

Internal ID

7000616

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr7:75121909..75144798	hg38	UCSC Ensembl
Inner	chr7:75121909..75144798	hg38	UCSC Ensembl
Outer	chr7:75121409..75145298	hg38	UCSC Ensembl
	chr7:74537710..74560605	hg19	UCSC Ensembl
Inner	chr7:74537710..74560605	hg19	UCSC Ensembl
Outer	chr7:74537210..74561105	hg19	UCSC Ensembl

Cytoband

7q11.23

Allele length

Assembly	Allele length
hg38	22890
hg19	22896

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv12845619, essv12845503, essv12845633, essv12845593, essv12845530, essv12845601, essv12845532, essv12845597, essv12845609, essv12845519, essv12845536, essv12845518, essv12845625, essv12845600, essv12845548, essv12845542, essv12845550, essv12845514, essv12845500, essv12845538, essv12845624, essv12845598, essv12845544, essv12845587, essv12845541, essv12845553, essv12845605, essv12845534, essv12845502, essv12845627, essv12845622, essv12845513, essv12845606, essv12845535, essv12845623, essv12845582, essv12845516, essv12845521, essv12845547, essv12845637, essv12845604, essv12845603, essv12845505, essv12845512, essv12845490, essv12845607, essv12845596, essv12845510, essv12845487, essv12845558, essv12845539, essv12845524, essv12845613, essv12845588, essv12845632, essv12845488, essv12845639, essv12845584, essv12845615, essv12845501, essv12845540, essv12845620, essv12845641, essv12845578, essv12845621, essv12845640, essv12845511, essv12845509, essv12845493, essv12845612, essv12845561, essv12845528, essv12845577, essv12845543, essv12845568, essv12845526, essv12845591, essv12845562, essv12845569, essv12845531, essv12845507, essv12845549, essv12845491, essv12845570, essv12845586, essv12845616, essv12845575, essv12845557, essv12845572, essv12845635, essv12845574, essv12845552, essv12845508, essv12845520, essv12845594, essv12845563, essv12845628, essv12845611, essv12845489, essv12845573, essv12845585, essv12845631, essv12845617, essv12845590, essv12845602, essv12845589, essv12845638, essv12845551, essv12845525, essv12845559, essv12845636, essv12845595, essv12845608, essv12845576, essv12845522, essv12845545, essv12845504, essv12845579, essv12845485, essv12845614, essv12845592, essv12845555, essv12845499, essv12845565, essv12845517, essv12845486, essv12845566, essv12845583, essv12845484, essv12845483, essv12845492, essv12845546, essv12845498, essv12845626, essv12845634, essv12845564, essv12845554, essv12845537, essv12845495, essv12845580, essv12845527, essv12845515, essv12845610, essv12845560, essv12845529, essv12845630, essv12845556, essv12845571, essv12845618, essv12845494, essv12845629, essv12845497, essv12845523, essv12845567, essv12845581, essv12845599, essv12845533, essv12845506, essv12845496

Samples

HG01986, NA18502, NA20339, NA19028, HG03559, HG02890, NA19222, HG02610, HG02628, NA19703, HG03378, NA19466, HG03548, HG01885, HG03175, HG02433, HG03241, HG02836, HG02798, HG02012, NA18486, HG03521, HG03280, NA20298, HG03190, NA18878, NA18504, NA20346, HG03193, HG03172, HG02888, HG02589, HG02895, HG03478, NA19107, NA19446, HG03133, HG03436, HG03086, HG02811, HG03385, HG03168, HG03485, HG02620, HG02549, NA18498, HG03479, NA19904, NA19384, HG02816, NA20291, HG03520, NA19383, HG03189, HG02315, HG03268, NA19137, HG03212, HG03195, NA19172, HG02588, HG02571, HG02502, NA18520, HG03225, HG02946, HG00637, NA18864, HG03267, HG02623, NA19025, HG03114, HG02882, NA19451, NA19027, HG02879, HG02819, HG02479, HG03343, HG02943, HG02442, HG02820, HG03061, HG03511, HG02334, NA19152, HG02511, HG02108, NA18915, HG02887, HG02307, NA18871, HG02968, HG02878, HG03563, HG03301, HG03476, NA18856, HG01241, HG03571, NA20282, NA19338, HG02979, NA19257, NA19452, HG02256, HG01403, NA18858, HG01107, NA19436, HG02255, NA19440, NA19834, HG03461, NA19256, NA19147, HG03367, NA19712, NA19434, HG02308, NA19473, HG02983, HG01915, HG03117, NA19331, HG01958, HG02923, HG02837, NA20362, NA19310, NA19467, HG02580, HG03108, HG02558, NA19376, NA19248, HG02974, HG02095, HG03097, HG02053, HG02107, HG03060, HG02462, NA19185, NA19102, HG03410, NA18876, HG03538, HG03401, HG02947, NA19430, NA19129, NA19146, HG02851, NA19463, NA18511, HG03198, HG02343, NA19429

Known Genes

GTF2IRD2, GTF2IRD2B

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3613720

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	159
Observed Complex	0
Frequency	n/a