A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12047907



Internal ID3989682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:124850497..124851592hg38UCSC Ensembl
Innerchr5:124850506..124851584hg38UCSC Ensembl
Outerchr5:124850489..124851601hg38UCSC Ensembl
chr5:124186190..124187285hg19UCSC Ensembl
Innerchr5:124186199..124187277hg19UCSC Ensembl
Outerchr5:124186182..124187294hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg381096
hg191096
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3606642
Supporting Variants
SamplesHG03643
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12047907
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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