A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741341



Internal ID18715587
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 StatusS
Merged Variantsesv3542594
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741341
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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