A curated catalogue of human genomic structural variation




Variant Details

Variant: essv2585682



Internal ID347261
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv275461
Supporting Variants
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)essv2585682
Frequency
Sample Size1250
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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