A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719925



Internal ID10303561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:36945928..36946378hg38UCSC Ensembl
Outerchr2:37173071..37173521hg19UCSC Ensembl
Cytoband2p22.2
Allele length
AssemblyAllele length
hg38451
hg19451
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937987
SamplesSSM022
Known GenesSTRN
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)esv2719925
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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