A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985285



Internal ID12636380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:88758683..89001116hg38UCSC Ensembl
Innerchr7:88387997..88630430hg19UCSC Ensembl
Innerchr7:88225933..88468366hg18UCSC Ensembl
Innerchr7:88032648..88275081hg17UCSC Ensembl
Cytoband7q21.13
Allele length
AssemblyAllele length
hg38242434
hg19242434
hg18242434
hg17242434
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752188
Supporting Variants
SamplesSPC_136
Known GenesC7orf62, ZNF804B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985285
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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