A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6900012



Internal ID10294692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148375781..148379229hg38UCSC Ensembl
Outerchr7:148072873..148076321hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383449
hg193449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735322
Supporting Variants
SamplesSSM100
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)essv6900012
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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