A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842756



Internal ID9895276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:100239917..100262290hg38UCSC Ensembl
Outerchr14:100706254..100728627hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3822374
hg1922374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749105
Supporting Variants
SamplesSSM084
Known GenesYY1
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)essv6842756
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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