A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719445



Internal ID10303081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2792689..2793069hg38UCSC Ensembl
Outerchr2:2796461..2796841hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38381
hg19381
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv577e201
Supporting Variantsessv6683035, essv6832815, essv6871912, essv6892556, essv6726096, essv6693059, essv6797734, essv6675451, essv6729878, essv6686359, essv6886173, essv6825245
SamplesSSM046, SSM047, SSM096, SSM035, SSM032, SSM072, SSM082, SSM080, SSM037, SSM091, SSM034, SSM098
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)esv2719445
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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