A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12346973



Internal ID2348789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:51610823..51627352hg38UCSC Ensembl
chr6:51475621..51492150hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3816530
hg1916530
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608980
Supporting Variants
SamplesHG04158
Known GenesPKHD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12346973
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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