A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607353



Internal ID6647594
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1150e214
Supporting Variantsessv12115659
SamplesHG01528
Known GenesADRA1B, TTC1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607353
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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