A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607673



Internal ID6994605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176561743..176567595hg38UCSC Ensembl
Innerchr5:176561893..176567445hg38UCSC Ensembl
Outerchr5:176561593..176567745hg38UCSC Ensembl
chr5:175988744..175994596hg19UCSC Ensembl
Innerchr5:175988894..175994446hg19UCSC Ensembl
Outerchr5:175988594..175994746hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg385853
hg195853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12142300
SamplesHG00651
Known GenesCDHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607673
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