A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670731



Internal ID9590150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:110766779..110767396hg38UCSC Ensembl
Outerchr6:110766740..110767453hg38UCSC Ensembl
Innerchr6:111087982..111088599hg19UCSC Ensembl
Outerchr6:111087943..111088656hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38714
hg19714
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6558669, essv5592039, essv5479730, essv6092721, essv6326339, essv6564636, essv6248290, essv6262967, essv5548462, essv6396724, essv6488047, essv5497195, essv5840919, essv6466514, essv6257746, essv5461636, essv6563898, essv6283821, essv6438727, essv6005230, essv6132792, essv6167975, essv6497100
SamplesNA20787, NA20786, NA18541, HG00280, NA18488, NA19059, HG00421, NA11994, NA19057, NA18622, NA19908, NA12400, NA19213, NA19703, NA19901, NA18988, NA18985, NA19921, NA18983, NA19723, NA18867, NA18565, NA18989
Known GenesCDK19
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670731
Frequency
Sample Size1151
Observed Gain0
Observed Loss23
Observed Complex0
Frequencyn/a


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