A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659634



Internal ID9925739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241078122..241078851hg38UCSC Ensembl
chr2:242017537..242018266hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38730
hg19730
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv772e199
Supporting Variantsessv6536556, essv6318056, essv6262568
SamplesNA18910, NA19395, NA19835
Known GenesSNED1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659634
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