A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3615237



Internal ID6655436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:140531567..140532035hg38UCSC Ensembl
Innerchr7:140531571..140532032hg38UCSC Ensembl
Outerchr7:140531564..140532039hg38UCSC Ensembl
chr7:140231367..140231835hg19UCSC Ensembl
Innerchr7:140231371..140231832hg19UCSC Ensembl
Outerchr7:140231364..140231839hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38469
hg19469
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12984811, essv12984816, essv12984758, essv12984819, essv12984799, essv12984770, essv12984763, essv12984780, essv12984782, essv12984753, essv12984807, essv12984792, essv12984796, essv12984808, essv12984754, essv12984789, essv12984756, essv12984784, essv12984774, essv12984775, essv12984800, essv12984759, essv12984791, essv12984810, essv12984764, essv12984777, essv12984778, essv12984765, essv12984801, essv12984771, essv12984793, essv12984802, essv12984805, essv12984783, essv12984776, essv12984755, essv12984769, essv12984815, essv12984762, essv12984772, essv12984761, essv12984797, essv12984787, essv12984795, essv12984803, essv12984766, essv12984788, essv12984812, essv12984798, essv12984806, essv12984804, essv12984814, essv12984786, essv12984760, essv12984757, essv12984767, essv12984817, essv12984818, essv12984790, essv12984809, essv12984785, essv12984779, essv12984813, essv12984781, essv12984794, essv12984768, essv12984773
SamplesNA19913, NA19152, NA19214, NA19904, NA19437, NA19114, NA18874, HG03437, HG03410, HG03129, HG02896, NA18511, HG03189, NA19334, NA19923, NA19331, HG02946, HG03111, NA19184, HG02977, HG03298, HG03103, NA19701, HG02583, HG02805, NA19467, HG03376, HG03461, NA19323, HG03484, HG02716, HG01402, NA19900, NA19107, HG02012, HG03559, HG03464, HG02941, NA19360, HG02304, HG03169, NA19153, HG02878, NA19172, HG03397, NA19375, NA19238, NA19119, NA19098, HG02558, NA18878, HG03157, HG03118, HG01880, HG03132, HG03385, HG02484, HG02819, NA18907, HG02629, HG03198, HG02702, HG03077, HG03060, HG03449, NA19200, HG03082
Known GenesDENND2A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3615237
Frequency
Sample Size2504
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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