A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979055



Internal ID12979561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:40369807..40449484hg38UCSC Ensembl
Innerchr7:40409406..40489083hg19UCSC Ensembl
Innerchr7:40375931..40455608hg18UCSC Ensembl
Innerchr7:40182646..40262323hg17UCSC Ensembl
Cytoband7p14.1
Allele length
AssemblyAllele length
hg3879678
hg1979678
hg1879678
hg1779678
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34484
Supporting Variants
SamplesNA12872
Known GenesC7orf10
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979055
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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