A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12344727



Internal ID6747140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49462181..49480414hg38UCSC Ensembl
chr6:49429894..49448127hg19UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3818234
hg1918234
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608946
Supporting Variants
SamplesNA20863
Known GenesCENPQ, MUT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12344727
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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