A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719811



Internal ID10303447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:23348162..23348327hg38UCSC Ensembl
Outerchr2:23571033..23571198hg19UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38166
hg19166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6720910, essv6781183, essv6825286, essv6821459, essv6955233, essv6864301, essv6669419, essv6961999, essv6679462, essv6853655, essv6832845, essv6847467
SamplesSSM027, SSM079, SSM087, SSM026, SSM089, SSM031, SSM086, SSM033, SSM068, SSM082, SSM007, SSM080
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)esv2719811
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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