A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941190



Internal ID9702447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13886966..13887607hg38UCSC Ensembl
Outerchr18:13886965..13887606hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38642
hg19642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716826, esv2716824
Supporting Variants
SamplesSSM022
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)essv6941190
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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