A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808487



Internal ID9657181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:92929101..92929579hg38UCSC Ensembl
Outerchr14:93395446..93395924hg19UCSC Ensembl
Cytoband14q32.12
Allele length
AssemblyAllele length
hg38479
hg19479
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749027
Supporting Variants
SamplesSSM009
Known GenesCHGA
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)essv6808487
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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