A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611514



Internal ID6651732
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162313440..162323421hg38UCSC Ensembl
Innerchr6:162313440..162323421hg38UCSC Ensembl
Outerchr6:162313336..162323483hg38UCSC Ensembl
chr6:162734472..162744453hg19UCSC Ensembl
Innerchr6:162734472..162744453hg19UCSC Ensembl
Outerchr6:162734368..162744515hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg389982
hg199982
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12621126, essv12621129, essv12621122, essv12621128, essv12621131, essv12621121, essv12621123, essv12621118, essv12621119, essv12621130, essv12621124, essv12621120, essv12621127, essv12621125
SamplesHG01864, NA18534, HG03084, HG03593, HG01051, HG00479, NA19076, HG00593, HG01874, NA18537, HG00176, NA18565, HG01323, NA19448
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611514
Frequency
Sample Size2504
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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