A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10403806



Internal ID405622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:6832866..6846168hg38UCSC Ensembl
Innerchr2:6833366..6845668hg38UCSC Ensembl
Outerchr2:6831866..6847168hg38UCSC Ensembl
chr2:6972997..6986299hg19UCSC Ensembl
Innerchr2:6973497..6985799hg19UCSC Ensembl
Outerchr2:6971997..6987299hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3813303
hg1913303
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589733
Supporting Variants
SamplesNA21144
Known GenesCMPK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10403806
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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