A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6987146



Internal ID12631316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88548580..89001116hg38UCSC Ensembl
Innerchr7:88177895..88630430hg19UCSC Ensembl
Innerchr7:88015831..88468366hg18UCSC Ensembl
Innerchr7:87822546..88275081hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38452537
hg19452536
hg18452536
hg17452536
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752187
Supporting Variants
SamplesBEC_9
Known GenesC7orf62, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6987146
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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