A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542617



Internal ID18397007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148365739..148366072hg38UCSC Ensembl
Outerchr7:148365725..148366149hg38UCSC Ensembl
Innerchr7:148062831..148063164hg19UCSC Ensembl
Outerchr7:148062817..148063241hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38425
hg19425
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741364
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542617
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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