A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3542594



Internal ID18396984
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:146812872..146817326hg38UCSC Ensembl
Outerchr7:146811909..146817408hg38UCSC Ensembl
Innerchr7:146509964..146514418hg19UCSC Ensembl
Outerchr7:146509001..146514500hg19UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg385500
hg195500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9741341
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3542594
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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