A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11938296



Internal ID595837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68994387..68997396hg38UCSC Ensembl
chr5:68290214..68293223hg19UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg383010
hg193010
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605374
Supporting Variants
SamplesHG00260
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11938296
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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