A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9841426



Internal ID6466719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1696366..1742370hg38UCSC Ensembl
chr1:1627805..1673809hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3846005
hg1946005
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585015
Supporting Variants
SamplesNA12889
Known GenesCDK11A, CDK11B, MMP23A, SLC35E2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9841426
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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