A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611656



Internal ID6651874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167263655..167354718hg38UCSC Ensembl
Innerchr6:167264155..167354218hg38UCSC Ensembl
Outerchr6:167262655..167355718hg38UCSC Ensembl
chr6:167677143..167768206hg19UCSC Ensembl
Innerchr6:167677643..167767706hg19UCSC Ensembl
Outerchr6:167676143..167769206hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3891064
hg1991064
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12643427, essv12643430, essv12643431, essv12643432, essv12643425, essv12643428, essv12643429, essv12643426, essv12643424
SamplesHG02890, HG02610, HG03241, HG03460, HG02571, HG03428, NA20281, HG03279, HG03401
Known GenesTTLL2, UNC93A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611656
Frequency
Sample Size2504
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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