A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6849482



Internal ID9901330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33663187..33663575hg38UCSC Ensembl
Outerchr7:33702799..33703187hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38389
hg19389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734233, esv2734221, esv2734226, esv2734234
Supporting Variants
SamplesSSM086
Known Genes
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)essv6849482
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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