A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590628



Internal ID6977957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47397362..47400699hg38UCSC Ensembl
Innerchr2:47397412..47400649hg38UCSC Ensembl
Outerchr2:47397312..47400749hg38UCSC Ensembl
chr2:47624501..47627838hg19UCSC Ensembl
Innerchr2:47624551..47627788hg19UCSC Ensembl
Outerchr2:47624451..47627888hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383338
hg193338
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10491057, essv10491056, essv10491054, essv10491059, essv10491055, essv10491058, essv10491053
SamplesHG03691, NA21107, NA19440, NA19072, NA20887, HG04098, HG03872
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590628
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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