A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986180



Internal ID12973780
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:51561594..51769995hg38UCSC Ensembl
Innerchr7:51629291..51837691hg19UCSC Ensembl
Innerchr7:51596785..51805185hg18UCSC Ensembl
Innerchr7:51403500..51611900hg17UCSC Ensembl
Cytoband7p12.1
Allele length
AssemblyAllele length
hg38208402
hg19208401
hg18208401
hg17208401
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)essv6986180
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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