A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607567



Internal ID6647807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:170667228..170669725hg38UCSC Ensembl
Innerchr5:170667278..170669676hg38UCSC Ensembl
Outerchr5:170667179..170669775hg38UCSC Ensembl
chr5:170094232..170096729hg19UCSC Ensembl
Innerchr5:170094282..170096680hg19UCSC Ensembl
Outerchr5:170094183..170096779hg19UCSC Ensembl
Cytoband5q35.1
Allele length
AssemblyAllele length
hg382498
hg192498
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12129099, essv12129098
SamplesHG00689, HG00651
Known GenesKCNIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607567
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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