A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716825



Internal ID9951114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13886934..13887463hg38UCSC Ensembl
Outerchr18:13886933..13887462hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38530
hg19530
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6913402, essv6971659, essv6945374
SamplesSSM028, SSM003, SSM015
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)esv2716825
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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