A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863336



Internal ID10257187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:58134324..58134661hg38UCSC Ensembl
Outerchr18:55801556..55801893hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38338
hg19338
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717156
Supporting Variants
SamplesSSM088
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)essv6863336
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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