A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2733174



Internal ID10316810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:166259436..166259880hg38UCSC Ensembl
Outerchr6:166672924..166673368hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6903839, essv6969513, essv6918974, essv6774705, essv6731002, essv6923203, essv6684115
SamplesSSM013, SSM028, SSM047, SSM018, SSM017, SSM066, SSM034
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)esv2733174
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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