A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606642



Internal ID6993577
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12047914, essv12047911, essv12047913, essv12047907, essv12047908, essv12047918, essv12047909, essv12047910, essv12047915, essv12047916, essv12047917, essv12047912
SamplesNA20882, NA20878, HG04202, NA20894, HG03782, HG03874, HG03814, HG04146, NA20867, HG03643, NA21125, HG04080
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606642
Frequency
Sample Size2504
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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