Variant Details

Variant: esv3630048

Internal ID

7016868

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:77705223..77706957	hg38	UCSC Ensembl
Inner	chr12:77705224..77706956	hg38	UCSC Ensembl
Outer	chr12:77705222..77706958	hg38	UCSC Ensembl
	chr12:78099003..78100737	hg19	UCSC Ensembl
Inner	chr12:78099004..78100736	hg19	UCSC Ensembl
Outer	chr12:78099002..78100738	hg19	UCSC Ensembl

Cytoband

12q21.2

Allele length

Assembly	Allele length
hg38	1735
hg19	1735

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv14543679, essv14543721, essv14543616, essv14543611, essv14543715, essv14543677, essv14543637, essv14543647, essv14543620, essv14543698, essv14543689, essv14543704, essv14543703, essv14543682, essv14543658, essv14543691, essv14543646, essv14543663, essv14543632, essv14543709, essv14543607, essv14543701, essv14543708, essv14543638, essv14543720, essv14543641, essv14543618, essv14543692, essv14543675, essv14543643, essv14543652, essv14543654, essv14543716, essv14543619, essv14543614, essv14543622, essv14543676, essv14543609, essv14543626, essv14543617, essv14543633, essv14543673, essv14543702, essv14543615, essv14543639, essv14543687, essv14543645, essv14543693, essv14543604, essv14543636, essv14543661, essv14543690, essv14543655, essv14543660, essv14543718, essv14543659, essv14543600, essv14543696, essv14543672, essv14543681, essv14543700, essv14543680, essv14543706, essv14543605, essv14543713, essv14543697, essv14543671, essv14543669, essv14543662, essv14543624, essv14543688, essv14543623, essv14543628, essv14543714, essv14543678, essv14543603, essv14543612, essv14543683, essv14543670, essv14543601, essv14543651, essv14543656, essv14543644, essv14543707, essv14543657, essv14543686, essv14543719, essv14543712, essv14543685, essv14543634, essv14543642, essv14543711, essv14543694, essv14543650, essv14543625, essv14543648, essv14543665, essv14543710, essv14543640, essv14543602, essv14543667, essv14543630, essv14543610, essv14543717, essv14543649, essv14543674, essv14543631, essv14543668, essv14543699, essv14543653, essv14543613, essv14543705, essv14543635, essv14543621, essv14543606, essv14543608, essv14543664, essv14543629, essv14543684, essv14543695, essv14543627, essv14543666, essv14543599

Samples

HG03514, NA20588, NA19028, NA19700, HG02652, NA19397, NA19399, HG03517, HG00306, HG02891, NA20321, HG03298, HG02476, HG03455, HG03295, HG01456, HG02589, HG02536, HG01924, NA19374, NA19201, HG02811, HG03135, NA20798, HG02491, HG02485, NA19119, NA20317, NA19916, NA18916, NA07048, NA12283, NA19038, HG02281, NA19923, HG02561, HG00148, HG02573, NA19137, NA19238, HG03045, NA19239, NA19445, HG03055, NA20127, NA18867, HG03369, NA20515, NA19200, HG00264, HG01312, HG00188, HG03120, NA18934, NA19175, HG02511, NA20810, HG00132, NA18915, NA20862, NA18871, HG03159, HG03081, HG03781, HG02537, HG01889, HG02555, NA11840, HG03397, NA18856, NA19113, HG04189, HG01101, NA19320, NA18853, HG03451, HG02979, HG00141, HG02896, NA18858, HG01956, NA19436, NA19308, NA20522, HG02759, HG02010, HG01131, NA19454, HG01685, NA19435, NA19144, HG02314, HG03433, HG02317, HG02558, NA20357, HG03432, HG02971, HG03112, HG02970, HG01912, NA19223, HG03066, HG03279, HG02053, HG00174, HG02013, HG02052, HG01883, NA19121, NA19030, HG01617, NA19129, HG03376, NA19463, NA18522, HG02629, HG01509, NA19429, HG03166, HG03271, HG03196, HG02760

Known Genes

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3630048

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	123
Observed Complex	0
Frequency	n/a