A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6820570



Internal ID9873433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13887309..13887382hg38UCSC Ensembl
Outerchr18:13887308..13887381hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716826, esv2716824, esv2716827
Supporting Variants
SamplesSSM078
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)essv6820570
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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