A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10720002



Internal ID4791072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:154843982..154847849hg38UCSC Ensembl
chr2:155700494..155704361hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593000
Supporting Variants
SamplesNA11920
Known GenesKCNJ3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10720002
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