A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717156



Internal ID10300792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58134320..58134703hg38UCSC Ensembl
Outerchr18:55801552..55801935hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692284, essv6744599, essv6977750, essv6852479, essv6863336, essv6666070, essv6902048, essv6888641, essv6832089
SamplesSSM036, SSM088, SSM029, SSM096, SSM086, SSM081, SSM007, SSM004, SSM012
Known GenesNEDD4L
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)esv2717156
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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