A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590798



Internal ID6978126
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:52715137..52831429hg38UCSC Ensembl
Innerchr2:52715637..52830929hg38UCSC Ensembl
Outerchr2:52714137..52832429hg38UCSC Ensembl
chr2:52942275..53058567hg19UCSC Ensembl
Innerchr2:52942775..53058067hg19UCSC Ensembl
Outerchr2:52941275..53059567hg19UCSC Ensembl
Cytoband2p16.2
Allele length
AssemblyAllele length
hg38116293
hg19116293
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10506535, essv10506533, essv10506534, essv10506536
SamplesHG03229, HG02819, HG03685, HG03971
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590798
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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