A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6887716



Internal ID9935916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:1592412..1592680hg38UCSC Ensembl
Outerchr10:1634607..1634875hg19UCSC Ensembl
Cytoband10p15.3
Allele length
AssemblyAllele length
hg38269
hg19269
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
SamplesSSM096
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)essv6887716
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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