A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11854827



Internal ID3258153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:31204851..31209190hg38UCSC Ensembl
Innerchr5:31204858..31209184hg38UCSC Ensembl
Outerchr5:31204845..31209197hg38UCSC Ensembl
chr5:31204958..31209297hg19UCSC Ensembl
Innerchr5:31204965..31209291hg19UCSC Ensembl
Outerchr5:31204952..31209304hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg384340
hg194340
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604573
Supporting Variants
SamplesHG02881
Known GenesCDH6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11854827
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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