A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590517



Internal ID6977846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43003678..43004377hg38UCSC Ensembl
Innerchr2:43003702..43004354hg38UCSC Ensembl
Outerchr2:43003655..43004401hg38UCSC Ensembl
chr2:43230818..43231517hg19UCSC Ensembl
Innerchr2:43230842..43231494hg19UCSC Ensembl
Outerchr2:43230795..43231541hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38700
hg19700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481729, essv10481730, essv10481736, essv10481738, essv10481721, essv10481734, essv10481728, essv10481724, essv10481722, essv10481719, essv10481723, essv10481735, essv10481720, essv10481731, essv10481718, essv10481725, essv10481726, essv10481733, essv10481727, essv10481737, essv10481732
SamplesNA19058, NA19055, NA18980, HG00452, NA18940, HG03460, HG02315, NA18617, HG02164, HG00629, NA19091, NA19070, HG01857, NA19347, NA18945, NA18974, HG01858, NA18643, HG01872, NA18983, NA18997
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590517
Frequency
Sample Size2504
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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