A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671329



Internal ID9937434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:110248533..110250682hg38UCSC Ensembl
chr6:110569736..110571885hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg382150
hg192150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5637220, essv5872509, essv6243411, essv6195175, essv6389464, essv6149437, essv5914597, essv6274719, essv5666618, essv6167794, essv6016673
SamplesHG00142, NA11829, NA12414, NA12155, NA20515, NA12748, NA19455, NA19428, HG00171, NA12006, HG00554
Known GenesMETTL24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671329
Frequency
Sample Size1151
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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