A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608093



Internal ID6995023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11168371..11172767hg38UCSC Ensembl
chr6:11168604..11173000hg19UCSC Ensembl
Cytoband6p24.2
Allele length
AssemblyAllele length
hg384397
hg194397
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12189385, essv12189381, essv12189383, essv12189382, essv12189380, essv12189384
SamplesNA18519, NA19207, HG03132, NA19395, NA19102, HG02343
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608093
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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