A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751824



Internal ID12985376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117488744..117647234hg38UCSC Ensembl
Innerchr2:118246320..118404810hg19UCSC Ensembl
Innerchr2:117962790..118121280hg18UCSC Ensembl
Innerchr2:117962550..118121040hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38158491
hg19158491
hg18158491
hg17158491
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv160e55
Supporting Variantsessv6989301, essv6989616, essv6982381
SamplesBEC_431
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751824
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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