A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12115659



Internal ID2117475
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:159917404..160035610hg38UCSC Ensembl
Innerchr5:159917554..160035460hg38UCSC Ensembl
Outerchr5:159917254..160035760hg38UCSC Ensembl
chr5:159344411..159462617hg19UCSC Ensembl
Innerchr5:159344561..159462467hg19UCSC Ensembl
Outerchr5:159344261..159462767hg19UCSC Ensembl
Cytoband5q33.3
Allele length
AssemblyAllele length
hg38118207
hg19118207
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607353
Supporting Variants
SamplesHG01528
Known GenesADRA1B, TTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12115659
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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