A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6665981



Internal ID9732846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:6003037..6003156hg38UCSC Ensembl
Outerchr18:6003036..6003155hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38120
hg19120
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716727, esv2716728
Supporting Variants
SamplesSSM029
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)essv6665981
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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