A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11826870



Internal ID2626102
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:18594968..18675905hg38UCSC Ensembl
chr5:18595077..18676014hg19UCSC Ensembl
Cytoband5p14.3
Allele length
AssemblyAllele length
hg3880938
hg1980938
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604230
Supporting Variants
SamplesHG02322
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11826870
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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