A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981144



Internal ID12972876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:57428891..57779299hg38UCSC Ensembl
Innerchr7:57488596..57839005hg19UCSC Ensembl
Innerchr7:57492538..57842947hg18UCSC Ensembl
Innerchr7:57299253..57649662hg17UCSC Ensembl
Cytoband7p11.1
Allele length
AssemblyAllele length
hg38350409
hg19350410
hg18350410
hg17350410
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752162
Supporting Variants
SamplesBEC_358
Known GenesZNF716
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981144
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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