A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6846531



Internal ID9898674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13886962..13887605hg38UCSC Ensembl
Outerchr18:13886961..13887604hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38644
hg19644
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716826, esv2716824
Supporting Variants
SamplesSSM085
Known GenesMC2R
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)essv6846531
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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