A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15664501



Internal ID5666317
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:35183869..35195278hg38UCSC Ensembl
chr17:33510888..33522297hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg3811410
hg1911410
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3640440
Supporting Variants
SamplesHG03642
Known GenesSLC35G3, UNC45B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15664501
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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