A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749160



Internal ID10330130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:103093471..103094134hg38UCSC Ensembl
Outerchr14:103559808..103560471hg19UCSC Ensembl
Cytoband14q32.32
Allele length
AssemblyAllele length
hg38664
hg19664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6928198, essv6803716, essv6752793, essv6740642
SamplesSSM073, SSM057, SSM019, SSM007
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)esv2749160
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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