A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674957



Internal ID9941062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:44535914..44537878hg38UCSC Ensembl
chr10:45031362..45033326hg19UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg381965
hg191965
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6373333, essv5734299, essv6088714
SamplesHG00542, HG00584, HG00595
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674957
Frequency
Sample Size1151
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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