A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12075600



Internal ID415973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:137809964..137816066hg38UCSC Ensembl
Innerchr5:137810034..137815997hg38UCSC Ensembl
Outerchr5:137809895..137816136hg38UCSC Ensembl
chr5:137145653..137151755hg19UCSC Ensembl
Innerchr5:137145723..137151686hg19UCSC Ensembl
Outerchr5:137145584..137151825hg19UCSC Ensembl
Cytoband5q31.2
Allele length
AssemblyAllele length
hg386103
hg196103
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606910
Supporting Variants
SamplesHG00125
Known GenesNPY6R
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12075600
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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