A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12505921



Internal ID6056785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:113323981..113328966hg38UCSC Ensembl
chr6:113645183..113650168hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg384986
hg194986
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610412
Supporting Variants
SamplesNA19451
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12505921
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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