A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12565808



Internal ID2567624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:138741041..138754403hg38UCSC Ensembl
chr6:139062178..139075540hg19UCSC Ensembl
Cytoband6q24.1
Allele length
AssemblyAllele length
hg3813363
hg1913363
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3610962
Supporting Variants
SamplesHG00148
Known GenesLOC100507462
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12565808
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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