A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12199852



Internal ID1992146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:15537855..15548757hg38UCSC Ensembl
chr6:15538086..15548988hg19UCSC Ensembl
Cytoband6p22.3
Allele length
AssemblyAllele length
hg3810903
hg1910903
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608175
Supporting Variants
SamplesHG01847
Known GenesDTNBP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12199852
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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