A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590519



Internal ID6977848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:43079629..43080925hg38UCSC Ensembl
Innerchr2:43079635..43080919hg38UCSC Ensembl
Outerchr2:43079623..43080931hg38UCSC Ensembl
chr2:43306767..43308063hg19UCSC Ensembl
Innerchr2:43306773..43308057hg19UCSC Ensembl
Outerchr2:43306761..43308069hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381297
hg191297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10481741, essv10481742, essv10481743
SamplesHG01176, HG01950, HG01669
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590519
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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