A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988887



Internal ID12631317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88548534..89001135hg38UCSC Ensembl
Innerchr7:88177849..88630449hg19UCSC Ensembl
Innerchr7:88015785..88468385hg18UCSC Ensembl
Innerchr7:87822500..88275100hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38452602
hg19452601
hg18452601
hg17452601
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)essv6988887
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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