A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12629997



Internal ID3559052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:165462035..165480247hg38UCSC Ensembl
chr6:165875523..165893735hg19UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3818213
hg1918213
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611619
Supporting Variants
SamplesHG03136
Known GenesPDE10A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12629997
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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