A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982460



Internal ID12973776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51548103..51771469hg38UCSC Ensembl
Innerchr7:51615800..51839165hg19UCSC Ensembl
Innerchr7:51583294..51806659hg18UCSC Ensembl
Innerchr7:51390009..51613374hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38223367
hg19223366
hg18223366
hg17223366
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752158
Supporting Variants
SamplesBEC_447
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982460
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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