A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588756



Internal ID6976172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:212828695..212840414hg38UCSC Ensembl
Innerchr1:212829195..212839914hg38UCSC Ensembl
Outerchr1:212827695..212841414hg38UCSC Ensembl
chr1:213002037..213013756hg19UCSC Ensembl
Innerchr1:213002537..213013256hg19UCSC Ensembl
Outerchr1:213001037..213014756hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg3811720
hg1911720
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10288746, essv10288733, essv10288780, essv10288718, essv10288731, essv10288702, essv10288792, essv10288795, essv10288714, essv10288759, essv10288757, essv10288713, essv10288738, essv10288728, essv10288783, essv10288763, essv10288736, essv10288766, essv10288727, essv10288782, essv10288793, essv10288779, essv10288767, essv10288769, essv10288751, essv10288715, essv10288722, essv10288760, essv10288776, essv10288794, essv10288781, essv10288749, essv10288700, essv10288785, essv10288741, essv10288737, essv10288777, essv10288721, essv10288773, essv10288768, essv10288732, essv10288725, essv10288740, essv10288762, essv10288703, essv10288784, essv10288748, essv10288761, essv10288758, essv10288704, essv10288717, essv10288778, essv10288699, essv10288744, essv10288707, essv10288752, essv10288743, essv10288742, essv10288719, essv10288726, essv10288730, essv10288747, essv10288709, essv10288786, essv10288716, essv10288705, essv10288750, essv10288720, essv10288701, essv10288775, essv10288796, essv10288712, essv10288711, essv10288791, essv10288765, essv10288756, essv10288771, essv10288724, essv10288754, essv10288739, essv10288723, essv10288787, essv10288772, essv10288755, essv10288789, essv10288753, essv10288735, essv10288729, essv10288698, essv10288788, essv10288710, essv10288774, essv10288706, essv10288745, essv10288790, essv10288708, essv10288764, essv10288770, essv10288734
SamplesHG01776, NA18622, HG01695, HG01618, NA21120, HG03741, HG01608, HG00096, HG03773, HG03821, HG00100, NA20514, HG04158, NA11920, HG01389, NA20512, HG04076, HG00318, HG00699, NA12004, NA20864, HG01461, HG02285, NA12750, NA20814, HG04100, HG04038, HG02185, HG01682, HG03640, HG04022, NA20890, HG02087, HG01488, HG03937, NA18993, HG03736, HG01710, HG03604, HG00736, HG03663, NA07347, HG03885, HG03978, NA19681, HG02603, HG03917, NA12275, HG03817, NA20775, HG01405, HG03814, NA18990, NA20757, NA18973, HG00739, NA10847, HG00349, HG01784, HG01139, HG03780, HG01248, HG01501, HG02233, HG01088, HG03491, HG00583, NA12234, NA21116, NA18548, HG03021, NA18537, HG03730, NA20299, NA19000, HG03951, NA20581, HG02008, NA20538, HG03631, HG04159, HG04176, NA20799, NA18952, HG02223, HG03875, NA20530, HG03869, HG01620, HG02685, HG00116, HG03727, NA12763, HG00111, NA19785, HG04014, HG02654, HG02235, NA11892
Known GenesC1orf227
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588756
Frequency
Sample Size2504
Observed Gain0
Observed Loss99
Observed Complex0
Frequencyn/a


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