A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6866067



Internal ID10262941
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375782..148379218hg38UCSC Ensembl
Outerchr7:148072874..148076310hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383437
hg193437
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735322
Supporting Variants
SamplesSSM089
Known GenesCNTNAP2
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6866067
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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