A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3610682



Internal ID6997599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:125212993..125274762hg38UCSC Ensembl
chr6:125534139..125595908hg19UCSC Ensembl
Cytoband6q22.31
Allele length
AssemblyAllele length
hg3861770
hg1961770
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12537137, essv12537134, essv12537131, essv12537136, essv12537138, essv12537135, essv12537132, essv12537133
SamplesNA20586, NA20769, HG00479, HG02031, NA18634, NA20765, HG02064, HG01869
Known GenesTPD52L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3610682
Frequency
Sample Size2504
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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