A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10425733



Internal ID1367943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20904452..20931361hg38UCSC Ensembl
Innerchr2:20904465..20931348hg38UCSC Ensembl
Outerchr2:20904439..20931374hg38UCSC Ensembl
chr2:21104212..21131121hg19UCSC Ensembl
Innerchr2:21104225..21131108hg19UCSC Ensembl
Outerchr2:21104199..21131134hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg3826910
hg1926910
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3590003
Supporting Variants
SamplesHG01205
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10425733
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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