A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12621506



Internal ID2623323
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:162555318..162582605hg38UCSC Ensembl
chr6:162976350..163003637hg19UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg3827288
hg1927288
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3611553
Supporting Variants
SamplesNA20787
Known GenesPARK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12621506
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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