A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34528



Internal ID12990565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:78029703..78388017hg38UCSC Ensembl
Innerchr2:78256829..78615143hg19UCSC Ensembl
Innerchr2:78110337..78468651hg18UCSC Ensembl
Innerchr2:78168484..78526798hg17UCSC Ensembl
Cytoband2p12
Allele length
AssemblyAllele length
hg38358315
hg19358315
hg18358315
hg17358315
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989093, essv6979449, essv6988176, essv6979450
SamplesNA18558
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)esv34528
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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