A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674062



Internal ID9940167
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:89890590..89901122hg38UCSC Ensembl
chr7:89519904..89530436hg19UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg3810533
hg1910533
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6035883, essv6086329, essv6559054, essv6390694, essv6409885, essv6264028, essv6412495, essv6084216, essv6199025, essv6269383, essv6245034, essv6083199, essv6544272, essv6234638, essv6148141, essv5597248, essv5639783, essv5508285, essv5483527, essv6516623, essv6592556, essv5709183, essv6367378, essv5974630, essv5798049, essv6442398, essv5934796, essv5635980
SamplesHG00452, NA19777, NA19684, HG01518, NA12341, HG00247, HG01069, NA20518, HG01519, HG01072, HG01048, HG00178, HG00137, NA19707, HG00190, HG01095, HG00701, HG01515, HG00275, NA12234, NA12546, NA19072, HG00375, NA20804, NA19439, HG00111, HG00112, NA20754
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674062
Frequency
Sample Size1151
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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