A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6915398



Internal ID10026434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:148330446..148330658hg38UCSC Ensembl
Outerchr7:148027538..148027750hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg38213
hg19213
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2735315, esv2735316
Supporting Variants
SamplesSSM016
Known GenesCNTNAP2, MIR548T
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)essv6915398
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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