A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591758



Internal ID6979086
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:100609490..100612569hg38UCSC Ensembl
Innerchr2:100609490..100612569hg38UCSC Ensembl
Outerchr2:100609412..100612596hg38UCSC Ensembl
chr2:101225952..101229031hg19UCSC Ensembl
Innerchr2:101225952..101229031hg19UCSC Ensembl
Outerchr2:101225874..101229058hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg383080
hg193080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10597261, essv10597262, essv10597263
SamplesHG02277, HG03902, HG03940
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591758
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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