A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982199



Internal ID12626649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7689616..8136671hg38UCSC Ensembl
Innerchr7:7729247..8176301hg19UCSC Ensembl
Innerchr7:7695772..8142826hg18UCSC Ensembl
Innerchr7:7502487..7949541hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38447056
hg19447055
hg18447055
hg17447055
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752177
Supporting Variants
SamplesBEC_401
Known GenesGLCCI1, ICA1, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982199
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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