A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6731107



Internal ID9794792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:33138205..33139740hg38UCSC Ensembl
Outerchr7:33177817..33179352hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381536
hg191536
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2734221, esv2734226, esv2734230
Supporting Variants
SamplesSSM047
Known GenesBBS9
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)essv6731107
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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