A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3609617



Internal ID6996538
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:76756120..76787439hg38UCSC Ensembl
chr6:77465837..77497156hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3831320
hg1931320
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12436990, essv12436991, essv12436989
SamplesHG02521, HG00464, NA18546
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3609617
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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