A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988084



Internal ID12979455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36127862..36341871hg38UCSC Ensembl
Innerchr2:36355005..36569014hg19UCSC Ensembl
Innerchr2:36208509..36422518hg18UCSC Ensembl
Innerchr2:36266656..36480665hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38214010
hg19214010
hg18214010
hg17214010
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34222
Supporting Variants
SamplesNA12814
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988084
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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