A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611678



Internal ID6998584
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167932745..168030841hg38UCSC Ensembl
chr6:168333425..168431521hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3898097
hg1998097
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12643863, essv12643869, essv12643864, essv12643870, essv12643867, essv12643871, essv12643865, essv12643862, essv12643861, essv12643868, essv12643872, essv12643866
SamplesHG01438, HG01773, HG02231, NA20294, NA20589, HG01761, HG03479, NA11894, NA06985, HG01395, HG01509, HG01786
Known GenesHGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611678
Frequency
Sample Size2504
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer