A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2720882



Internal ID10304518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:139179830..139181560hg38UCSC Ensembl
Outerchr2:139937400..139939130hg19UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg381731
hg191731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6736281, essv6950961
SamplesSSM050, SSM025
Known Genes
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)esv2720882
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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