A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734156



Internal ID9968482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:26182371..26183145hg38UCSC Ensembl
Outerchr7:26221991..26222765hg19UCSC Ensembl
Cytoband7p15.2
Allele length
AssemblyAllele length
hg38775
hg19775
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6923282, essv6968928, essv6701336, essv6684190, essv6705236, essv6799100
SamplesSSM039, SSM018, SSM001, SSM040, SSM072, SSM034
Known GenesNFE2L3
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)esv2734156
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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