A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979449



Internal ID12980202
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 StatusS
Merged Variantsesv34528
Supporting Variants
SamplesNA18558
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979449
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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