A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977711



Internal ID10080530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:31344684..31344833hg38UCSC Ensembl
Outerchr14:31813890..31814039hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748558, esv2748559
Supporting Variants
SamplesSSM029
Known GenesHEATR5A
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)essv6977711
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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