A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604150



Internal ID6991180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:17056754..17058418hg38UCSC Ensembl
Innerchr5:17056767..17058405hg38UCSC Ensembl
Outerchr5:17056741..17058431hg38UCSC Ensembl
chr5:17056863..17058527hg19UCSC Ensembl
Innerchr5:17056876..17058514hg19UCSC Ensembl
Outerchr5:17056850..17058540hg19UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg381665
hg191665
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11821243, essv11821244
SamplesHG00403, NA18747
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604150
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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