A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672175



Internal ID9938280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:159096295..159098488hg38UCSC Ensembl
chr1:159066085..159068278hg19UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg382194
hg192194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6133238, essv6233130, essv5397254, essv6226659, essv6142340, essv5936554, essv5720409, essv6317230, essv5813340
SamplesHG00337, HG00689, HG00422, NA18634, NA18953, NA18631, NA18552, NA19063, HG00437
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672175
Frequency
Sample Size1151
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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