A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609193



Internal ID6996115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:61203467..61288317hg38UCSC Ensembl
chr6:61949398..62034247hg19UCSC Ensembl
Cytoband6q11.1
Allele length
AssemblyAllele length
hg3884851
hg1984850
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12386628, essv12386629, essv12386626, essv12386624, essv12386625, essv12386627
SamplesNA11931, HG00127, NA19717, NA20859, HG03488, HG02351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609193
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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