A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6750954



Internal ID9653034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:10331731..10332271hg38UCSC Ensembl
Outerchr2:10471857..10472397hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719650
Supporting Variants
SamplesSSM008
Known GenesHPCAL1
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)essv6750954
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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