A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6724141



Internal ID9788525
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592412..1592679hg38UCSC Ensembl
Outerchr10:1634607..1634874hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38268
hg19268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2730284, esv2730217, esv2730306, esv2730239, esv2730273, esv2730317, esv2730228, esv2730295, esv2730251, esv2730262
Supporting Variants
SamplesSSM045
Known GenesADARB2
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)essv6724141
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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