A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591110



Internal ID6978438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:66069639..66070545hg38UCSC Ensembl
Innerchr2:66069639..66070545hg38UCSC Ensembl
Outerchr2:66069414..66070830hg38UCSC Ensembl
chr2:66296773..66297679hg19UCSC Ensembl
Innerchr2:66296773..66297679hg19UCSC Ensembl
Outerchr2:66296548..66297964hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg38907
hg19907
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10529750, essv10529752, essv10529754, essv10529755, essv10529751, essv10529753
SamplesNA18959, NA18969, HG00590, HG00632, HG00683, NA18570
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591110
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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