A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2734876



Internal ID10318512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr7:99180456..99181153hg38UCSC Ensembl
Outerchr7:98778079..98778776hg19UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg38698
hg19698
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6919182, essv6805699, essv6923378, essv6911637
SamplesSSM074, SSM018, SSM017, SSM015
Known GenesKPNA7
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)esv2734876
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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