A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719433



Internal ID10303069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:2722513..2722733hg38UCSC Ensembl
Outerchr2:2726285..2726505hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38221
hg19221
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6906346, essv6955160, essv6864261
SamplesSSM026, SSM089, SSM014
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)esv2719433
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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