A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720147



Internal ID9954443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:63887658..63891111hg38UCSC Ensembl
Outerchr2:64114792..64118245hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg383454
hg193454
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6793634, essv6793635
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)esv2720147
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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