A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719569



Internal ID10303205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:5706266..5706535hg38UCSC Ensembl
Outerchr2:5846398..5846667hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg38270
hg19270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6952418, essv6955182, essv6781157, essv6683046, essv6847437, essv6929361
SamplesSSM026, SSM086, SSM068, SSM020, SSM034, SSM004
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)esv2719569
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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