A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12142300



Internal ID1028554
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607673
Supporting Variants
SamplesHG00651
Known GenesCDHR2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12142300
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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