A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2724826



Internal ID3275322
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:4593629..4599926hg38UCSC Ensembl
Outerchr3:4635313..4641610hg19UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg386298
hg196298
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6830931
SamplesSSM002
Known GenesITPR1
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)esv2724826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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