A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980830



Internal ID12635446
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76650661..76920728hg38UCSC Ensembl
Innerchr7:76279978..76550045hg19UCSC Ensembl
Innerchr7:76117914..76387981hg18UCSC Ensembl
Innerchr7:75924629..76194696hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg38270068
hg19270068
hg18270068
hg17270068
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34657
Supporting Variants
SamplesNA19131
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980830
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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