A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3612870



Internal ID6999769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:38242943..38264666hg38UCSC Ensembl
chr7:38282544..38304267hg19UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3821724
hg1921724
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12741862, essv12741888, essv12741851, essv12741853, essv12741890, essv12741864, essv12741861, essv12741886, essv12741876, essv12741875, essv12741871, essv12741880, essv12741874, essv12741859, essv12741855, essv12741869, essv12741857, essv12741887, essv12741867, essv12741877, essv12741892, essv12741881, essv12741854, essv12741879, essv12741889, essv12741891, essv12741872, essv12741865, essv12741852, essv12741858, essv12741882, essv12741863, essv12741885, essv12741870, essv12741856, essv12741878, essv12741884, essv12741883, essv12741866, essv12741860, essv12741873, essv12741868
SamplesNA19648, NA11830, NA20783, HG01531, HG00327, NA19446, HG01459, NA07048, HG01668, NA20764, HG01133, HG00365, NA10847, HG00313, HG00380, NA20524, HG01247, HG01790, NA19776, HG01707, NA12249, NA18553, NA12827, HG02256, HG00099, HG02219, NA20542, HG01075, NA20801, NA12716, NA20351, NA20902, HG01113, HG00116, NA07037, NA21126, NA20847, HG02238, HG01269, HG00112, NA20908, NA21091
Known GenesTARP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3612870
Frequency
Sample Size2504
Observed Gain42
Observed Loss0
Observed Complex0
Frequencyn/a


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