A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611679



Internal ID6998585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:167932865..168197071hg38UCSC Ensembl
Innerchr6:167933015..168196921hg38UCSC Ensembl
Outerchr6:167932715..168197221hg38UCSC Ensembl
chr6:168333545..168597751hg19UCSC Ensembl
Innerchr6:168333695..168597601hg19UCSC Ensembl
Outerchr6:168333395..168597901hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38264207
hg19264207
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12643875, essv12643879, essv12643877, essv12643887, essv12643889, essv12643880, essv12643876, essv12643884, essv12643882, essv12643873, essv12643883, essv12643874, essv12643890, essv12643886, essv12643888, essv12643881, essv12643885, essv12643878
SamplesHG01438, HG01773, HG02231, NA20294, HG00356, NA20589, HG01761, HG00232, NA12815, HG01669, NA19774, NA11894, NA12249, NA06985, HG01375, HG01395, HG01509, HG01786
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611679
Frequency
Sample Size2504
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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