A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6755786



Internal ID9816599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52785737..52788446hg38UCSC Ensembl
Outerchr14:53252455..53255164hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382710
hg192710
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748720
Supporting Variants
SamplesSSM058
Known GenesGNPNAT1
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)essv6755786
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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