A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863272



Internal ID9910559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:6003080..6003169hg38UCSC Ensembl
Outerchr18:6003079..6003168hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3890
hg1990
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716727, esv2716728
Supporting Variants
SamplesSSM088
Known GenesL3MBTL4
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)essv6863272
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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