A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608771



Internal ID6995695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:40276609..40280076hg38UCSC Ensembl
chr6:40244348..40247815hg19UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg383468
hg193468
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12326751, essv12326750, essv12326748, essv12326749
SamplesNA21097, HG03905, NA18498, HG01286
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608771
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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