A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988083



Internal ID12979456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:36082519..36338307hg38UCSC Ensembl
Innerchr2:36309662..36565450hg19UCSC Ensembl
Innerchr2:36163166..36418954hg18UCSC Ensembl
Innerchr2:36221313..36477101hg17UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38255789
hg19255789
hg18255789
hg17255789
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)essv6988083
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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