A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985067



Internal ID12631315
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88548580..89018672hg38UCSC Ensembl
Innerchr7:88177895..88647986hg19UCSC Ensembl
Innerchr7:88015831..88485922hg18UCSC Ensembl
Innerchr7:87822546..88292637hg17UCSC Ensembl
Cytoband7q21.12
Allele length
AssemblyAllele length
hg38470093
hg19470092
hg18470092
hg17470092
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)essv6985067
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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