A curated catalogue of human genomic structural variation




Variant Details

Variant: essv12457754



Internal ID5692410
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:89009300..89016744hg38UCSC Ensembl
chr6:89719019..89726463hg19UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg387445
hg197445
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3609893
Supporting Variants
SamplesNA19086
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv12457754
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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