A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34966



Internal ID12991002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:83023418..83595918hg38UCSC Ensembl
Innerchr2:83250542..83823042hg19UCSC Ensembl
Innerchr2:83104053..83676553hg18UCSC Ensembl
Innerchr2:83162200..83734700hg17UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38572501
hg19572501
hg18572501
hg17572501
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6980241, essv6987743, essv6989158, essv6987744
SamplesNA06985
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34966
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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