A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605669



Internal ID6992607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:85091002..85261849hg38UCSC Ensembl
Innerchr5:85091152..85261699hg38UCSC Ensembl
Outerchr5:85090852..85261999hg38UCSC Ensembl
chr5:84386820..84557667hg19UCSC Ensembl
Innerchr5:84386970..84557517hg19UCSC Ensembl
Outerchr5:84386670..84557817hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38170848
hg19170848
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11962204
SamplesHG00361
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605669
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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