A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591463



Internal ID6978791
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:82179519..82209248hg38UCSC Ensembl
Innerchr2:82179519..82209248hg38UCSC Ensembl
Outerchr2:82179019..82209748hg38UCSC Ensembl
chr2:82406643..82436372hg19UCSC Ensembl
Innerchr2:82406643..82436372hg19UCSC Ensembl
Outerchr2:82406143..82436872hg19UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg3829730
hg1929730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv710e214
Supporting Variantsessv10561596, essv10561597, essv10561598
SamplesNA20850, NA18747, HG02699
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591463
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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