A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12102832



Internal ID5121664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:152751597..152754881hg38UCSC Ensembl
Innerchr5:152751597..152754881hg38UCSC Ensembl
Outerchr5:152751469..152755040hg38UCSC Ensembl
chr5:152131157..152134441hg19UCSC Ensembl
Innerchr5:152131157..152134441hg19UCSC Ensembl
Outerchr5:152131029..152134600hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg383285
hg193285
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3607210
Supporting Variants
SamplesNA18563
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12102832
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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