A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275461



Internal ID1681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:147731343..147731621hg38UCSC Ensembl
Outerchr7:147730665..147738995hg38UCSC Ensembl
Innerchr7:147428435..147428713hg19UCSC Ensembl
Outerchr7:147427757..147436087hg19UCSC Ensembl
Innerchr7:147059368..147059646hg18UCSC Ensembl
Outerchr7:147058690..147067020hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg388331
hg198331
hg188331
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585682
Samples
Known GenesCNTNAP2
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275461
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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