A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726479



Internal ID10310115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:195622183..195622745hg38UCSC Ensembl
Outerchr3:195349054..195349616hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38563
hg19563
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6798185, essv6686718, essv6813773, essv6726505, essv6973656, essv6711256, essv6840633, essv6848137, essv6962655, essv6892917, essv6886485, essv6804960
SamplesSSM027, SSM046, SSM074, SSM042, SSM084, SSM029, SSM096, SSM035, SSM086, SSM072, SSM077, SSM098
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)esv2726479
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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