A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6905128



Internal ID10017368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21183126..21183671hg38UCSC Ensembl
Outerchr14:21651285..21651830hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38546
hg19546
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748450
Supporting Variants
SamplesSSM013
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)essv6905128
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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