A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744197



Internal ID9806229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:22881681..22882230hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg19550
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748464, esv2748467
Supporting Variants
SamplesSSM053
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)essv6744197
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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