A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10727790



Internal ID729606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158458963..158465952hg38UCSC Ensembl
Innerchr2:158458963..158465952hg38UCSC Ensembl
Outerchr2:158458720..158466195hg38UCSC Ensembl
chr2:159315475..159322464hg19UCSC Ensembl
Innerchr2:159315475..159322464hg19UCSC Ensembl
Outerchr2:159315232..159322707hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg386990
hg196990
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593079
Supporting Variants
SamplesHG03298
Known GenesPKP4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10727790
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