A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719432



Internal ID10303068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2722115..2723085hg38UCSC Ensembl
Outerchr2:2725887..2726857hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38971
hg19971
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6840226, essv6906346, essv6704081, essv6968222, essv6825243, essv6886171, essv6933582, essv6868917, essv6955160, essv6864261, essv6669362, essv6874913, essv6859477, essv6879065, essv6766737, essv6710832, essv6781138, essv6910315, essv6750797, essv6693057
SamplesSSM008, SSM064, SSM042, SSM088, SSM028, SSM092, SSM084, SSM090, SSM021, SSM096, SSM026, SSM089, SSM031, SSM014, SSM068, SSM040, SSM015, SSM080, SSM037, SSM012
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)esv2719432
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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