A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12453923



Internal ID4883912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:82814234..82854131hg38UCSC Ensembl
chr6:83523953..83563850hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3839898
hg1939898
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609768
Supporting Variants
SamplesNA12399
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12453923
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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