A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12239541



Internal ID2241357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28846593..28886605hg38UCSC Ensembl
chr6:28814370..28854382hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3840013
hg1940013
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3608463
Supporting Variants
SamplesHG03910
Known GenesLOC401242
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12239541
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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