A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719815



Internal ID9954109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24228907..24229234hg38UCSC Ensembl
Outerchr2:24451776..24452103hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38328
hg19328
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6669422, essv6699925, essv6968264, essv6942121, essv6929387
SamplesSSM031, SSM020, SSM039, SSM028, SSM023
Known GenesITSN2
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)esv2719815
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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