A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678870



Internal ID9944975
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:88833003..89253136hg38UCSC Ensembl
Outerchr2:88832632..89253506hg38UCSC Ensembl
Innerchr2:89132516..89552622hg19UCSC Ensembl
Outerchr2:89132145..89552992hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38420875
hg19420848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv714e199
Supporting Variantsessv5699009, essv5760939, essv5599282, essv5623981, essv6097412, essv6362768, essv5592317, essv6252245, essv6114196, essv6222382, essv6213778, essv5525435, essv5409684, essv6114500, essv5528775, essv5784330, essv6029519, essv5441241, essv6110654, essv5886480, essv6239826, essv6125239, essv6450108, essv5884075, essv6316871, essv6235136, essv6210356, essv5891442, essv6088966, essv6553046, essv5478303, essv6421762, essv6352864, essv6323064, essv6035867, essv5455223, essv5597563, essv6192579, essv5434057, essv5715625, essv6551964, essv5755185, essv5829182
SamplesNA19701, NA19700, NA19703, NA19914, NA19704, NA20294, NA19819, NA20332, NA20346, NA20356, NA19920, NA20317, NA20287, NA20336, NA19904, NA20291, NA19917, NA20340, NA20342, NA20127, NA19985, NA19921, NA19908, NA19707, NA20314, NA19982, NA20126, NA20344, NA20299, NA20282, NA19625, NA20296, NA19834, NA20276, NA19712, NA19835, NA20281, NA19818, NA20348, NA19713, NA20289, NA19711, NA20322
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678870
Frequency
Sample Size1151
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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