A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731770



Internal ID9966088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29757917..29758261hg38UCSC Ensembl
Outerchr6:29725694..29726038hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg38345
hg19345
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6723165, essv6849032, essv6969292, essv6841184
SamplesSSM045, SSM028, SSM084, SSM086
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)esv2731770
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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