A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2677839



Internal ID9943944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97754577..97756488hg38UCSC Ensembl
chr14:98220914..98222825hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg381912
hg191912
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6043440, essv6264094, essv6398876, essv5872135, essv6247796, essv6126680, essv6355320, essv6192096, essv5551129, essv6045659, essv5734551, essv6505673, essv6336575, essv6544566, essv6309069, essv6229089, essv5996333, essv5526480, essv6171606, essv5684105, essv5789977, essv6221842
SamplesHG01462, NA11829, NA18508, HG01052, NA19704, HG00640, NA19377, NA18498, NA19130, NA19404, NA19456, NA19908, NA19327, NA19225, NA19401, NA19440, NA18909, NA19473, NA19818, NA19779, NA19213, NA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2677839
Frequency
Sample Size1151
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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