A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9741365



Internal ID18715611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:148376059..148378819hg38UCSC Ensembl
Outerchr7:148375409..148379315hg38UCSC Ensembl
Innerchr7:148073151..148075911hg19UCSC Ensembl
Outerchr7:148072501..148076407hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383907
hg193907
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3542618
Supporting Variants
Samples
Known GenesCNTNAP2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9741365
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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