A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670003



Internal ID9589422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:17684013..17686185hg38UCSC Ensembl
Outerchr2:17683979..17686220hg38UCSC Ensembl
Innerchr2:17865280..17867452hg19UCSC Ensembl
Outerchr2:17865246..17867487hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg382242
hg192242
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv685e199
Supporting Variantsessv6383398
SamplesHG00501
Known GenesSMC6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670003
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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