A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12461999



Internal ID2111889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:91963798..92038252hg38UCSC Ensembl
chr6:92673516..92747970hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3874455
hg1974455
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609950
Supporting Variants
SamplesHG01920
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12461999
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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