A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11957171



Internal ID5336963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:82270262..82273652hg38UCSC Ensembl
Innerchr5:82270262..82273652hg38UCSC Ensembl
Outerchr5:82269854..82274055hg38UCSC Ensembl
chr5:81566081..81569471hg19UCSC Ensembl
Innerchr5:81566081..81569471hg19UCSC Ensembl
Outerchr5:81565673..81569874hg19UCSC Ensembl
Cytoband5q14.2
Allele length
AssemblyAllele length
hg383391
hg193391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605612
Supporting Variants
SamplesNA18874
Known GenesRPS23
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11957171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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