A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11807560



Internal ID1522486
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:10119279..10178200hg38UCSC Ensembl
Innerchr5:10119429..10178050hg38UCSC Ensembl
Outerchr5:10119129..10178350hg38UCSC Ensembl
chr5:10119391..10178312hg19UCSC Ensembl
Innerchr5:10119541..10178162hg19UCSC Ensembl
Outerchr5:10119241..10178462hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg3858922
hg1958922
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3603993
Supporting Variants
SamplesHG01396
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11807560
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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