A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671976



Internal ID9938081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:149668117..149674273hg38UCSC Ensembl
chr6:149989253..149995409hg19UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg386157
hg196157
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5734346, essv6011456, essv5575747, essv6246166, essv5482491, essv6225163, essv6245993
SamplesHG01079, NA19315, NA19904, NA18520, NA19390, NA19439, NA19248
Known GenesLATS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671976
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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