A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589505



Internal ID6629794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:247067705..247069467hg38UCSC Ensembl
Innerchr1:247067756..247069417hg38UCSC Ensembl
Outerchr1:247067655..247069518hg38UCSC Ensembl
chr1:247231007..247232769hg19UCSC Ensembl
Innerchr1:247231058..247232719hg19UCSC Ensembl
Outerchr1:247230957..247232820hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10373549, essv10373503, essv10373558, essv10373463, essv10373501, essv10373539, essv10373577, essv10373536, essv10373516, essv10373585, essv10373508, essv10373513, essv10373587, essv10373556, essv10373578, essv10373550, essv10373452, essv10373515, essv10373505, essv10373479, essv10373575, essv10373576, essv10373457, essv10373567, essv10373481, essv10373566, essv10373504, essv10373541, essv10373529, essv10373492, essv10373487, essv10373514, essv10373497, essv10373574, essv10373559, essv10373498, essv10373499, essv10373543, essv10373586, essv10373466, essv10373451, essv10373588, essv10373476, essv10373461, essv10373495, essv10373580, essv10373521, essv10373533, essv10373569, essv10373582, essv10373484, essv10373554, essv10373486, essv10373525, essv10373519, essv10373545, essv10373482, essv10373490, essv10373553, essv10373480, essv10373570, essv10373538, essv10373584, essv10373590, essv10373579, essv10373458, essv10373494, essv10373561, essv10373496, essv10373493, essv10373511, essv10373456, essv10373565, essv10373531, essv10373502, essv10373532, essv10373548, essv10373485, essv10373572, essv10373564, essv10373459, essv10373468, essv10373517, essv10373546, essv10373462, essv10373465, essv10373467, essv10373472, essv10373483, essv10373488, essv10373571, essv10373589, essv10373477, essv10373537, essv10373471, essv10373470, essv10373527, essv10373544, essv10373563, essv10373583, essv10373473, essv10373535, essv10373551, essv10373469, essv10373510, essv10373475, essv10373568, essv10373552, essv10373573, essv10373506, essv10373507, essv10373449, essv10373528, essv10373512, essv10373500, essv10373491, essv10373526, essv10373489, essv10373547, essv10373524, essv10373555, essv10373562, essv10373534, essv10373460, essv10373455, essv10373474, essv10373542, essv10373509, essv10373448, essv10373464, essv10373530, essv10373520, essv10373454, essv10373581, essv10373518, essv10373540, essv10373523, essv10373453, essv10373478, essv10373522, essv10373450, essv10373557, essv10373560
SamplesHG03163, NA19146, HG02496, HG03135, HG02317, NA19152, NA19445, HG01241, HG02675, HG02970, HG03382, HG03479, HG02816, HG03112, HG02284, HG02799, NA19401, HG02334, HG03196, NA19023, HG02419, HG02979, HG03133, NA18877, NA19334, NA19331, HG03265, HG03469, NA19338, HG01883, NA20362, HG03048, NA19019, HG03458, HG02497, HG03294, NA19257, HG02613, NA19108, HG03485, HG02323, NA18488, NA19236, HG03109, HG02433, HG03394, NA19037, HG03159, HG02973, HG03049, NA19654, NA20340, NA19043, HG03376, HG02982, NA19463, NA19428, NA18912, NA18508, HG01248, NA19020, NA19107, HG03559, HG03436, HG03439, HG02861, NA20127, HG02667, NA18876, HG03445, HG03027, NA19457, HG03063, HG03225, NA19247, HG02814, HG02840, NA19377, NA19380, NA19153, HG02442, NA19189, NA20291, NA19374, HG03209, HG03397, NA19375, NA19384, HG03455, NA19102, HG03511, HG02594, HG02804, NA18510, HG02623, HG02807, NA19098, HG02429, NA19175, HG02111, HG03096, NA19332, NA19909, HG03428, HG02852, HG03433, HG02307, NA18910, HG02479, HG03297, NA20355, HG02624, HG02309, HG03108, NA19921, NA19376, NA18907, HG02923, NA19035, HG01971, NA18915, NA20276, NA19403, HG03267, NA20289, NA19818, HG03123, HG02589, HG02837, HG02891, HG03258, NA20359, HG02476, HG02445, HG03449, NA19130, HG03557, HG02620, HG02574, HG02013, NA19385, HG02820, HG03460
Known GenesZNF670, ZNF670-ZNF695
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589505
Frequency
Sample Size2504
Observed Gain0
Observed Loss143
Observed Complex0
Frequencyn/a


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