A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749097



Internal ID10330067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:99128041..99128833hg38UCSC Ensembl
Outerchr14:99594378..99595170hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38793
hg19793
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6747086, essv6936480, essv6924650, essv6761188, essv6740931, essv6735389, essv6741356, essv6901623, essv6744247, essv6763571
SamplesSSM021, SSM018, SSM061, SSM062, SSM001, SSM053, SSM055, SSM052, SSM049, SSM012
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)esv2749097
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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