A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2665333



Internal ID9931438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:117626899..117652832hg38UCSC Ensembl
chr2:118384475..118410408hg19UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg3825934
hg1925934
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6433698, essv6344200, essv6073621, essv5815632
SamplesHG01360, NA19788, NA20344, NA18873
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2665333
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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