A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11936973



Internal ID1838630
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:67280097..67295560hg38UCSC Ensembl
chr5:66575925..66591388hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg3815464
hg1915464
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605334
Supporting Variants
SamplesHG01707
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11936973
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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