A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719613



Internal ID10303249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:8027954..8028586hg38UCSC Ensembl
Outerchr2:8168084..8168716hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38633
hg19633
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6773695, essv6766745, essv6859491, essv6914208, essv6769808, essv6844101, essv6704091, essv6955194, essv6933605, essv6739058, essv6813406
SamplesSSM064, SSM065, SSM088, SSM021, SSM026, SSM066, SSM085, SSM040, SSM016, SSM077, SSM052
Known GenesLINC00299
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)esv2719613
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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