A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982716



Internal ID12628756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:91892814..92053640hg38UCSC Ensembl
Innerchr1:92358371..92519197hg19UCSC Ensembl
Innerchr1:92130959..92291785hg18UCSC Ensembl
Innerchr1:92070392..92231218hg17UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg38160827
hg19160827
hg18160827
hg17160827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750842
Supporting Variants
SamplesBEC_583
Known GenesBRDT, EPHX4, TGFBR3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982716
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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