A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982459



Internal ID12973774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51548103..51769985hg38UCSC Ensembl
Innerchr7:51615800..51837681hg19UCSC Ensembl
Innerchr7:51583294..51805175hg18UCSC Ensembl
Innerchr7:51390009..51611890hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38221883
hg19221882
hg18221882
hg17221882
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982459
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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