A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12656291



Internal ID4239916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:170559213..170601290hg38UCSC Ensembl
chr6:170868301..170910378hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3842078
hg1942078
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611742
Supporting Variants
SamplesHG03812
Known GenesPDCD2, TBP
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12656291
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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