A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748838



Internal ID9983122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:70424473..70424715hg38UCSC Ensembl
Outerchr14:70891190..70891432hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6945273, essv6932167, essv6977764, essv6673645
SamplesSSM023, SSM029, SSM031, SSM020
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)esv2748838
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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