A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808593



Internal ID10210140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:29648761..29650511hg38UCSC Ensembl
Outerchr7:29688377..29690127hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381751
hg191751
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734188, esv2734186
Supporting Variants
SamplesSSM075
Known GenesLOC646762
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)essv6808593
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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