A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12457584



Internal ID2459400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:88126658..88157430hg38UCSC Ensembl
chr6:88836377..88867149hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3830773
hg1930773
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609879
Supporting Variants
SamplesNA20775
Known GenesCNR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12457584
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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