A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609212



Internal ID6996134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61666309..61800478hg38UCSC Ensembl
chr6:62376214..62510383hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg38134170
hg19134170
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12387750, essv12387749, essv12387747, essv12387748
SamplesNA11931, NA19717, NA20859, HG02351
Known GenesKHDRBS2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609212
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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