A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6882533



Internal ID9931076
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:52785738..52788428hg38UCSC Ensembl
Outerchr14:53252456..53255146hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg382691
hg192691
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748720
Supporting Variants
SamplesSSM094
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)essv6882533
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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