A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720144



Internal ID9954440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63884108..63885632hg38UCSC Ensembl
Outerchr2:64111242..64112766hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381525
hg191525
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793630
SamplesSSM071
Known GenesUGP2
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)esv2720144
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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