A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950841



Internal ID10060130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:18635868..18636664hg38UCSC Ensembl
Outerchr2:18817134..18817930hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg38797
hg19797
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719765
Supporting Variants
SamplesSSM025
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)essv6950841
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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