A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2735321



Internal ID9969651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148366096..148366148hg38UCSC Ensembl
Outerchr7:148063188..148063240hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg3853
hg1953
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957638
SamplesSSM026
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)esv2735321
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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