A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11283740



Internal ID1285556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194354435..194362794hg38UCSC Ensembl
Innerchr3:194354456..194362774hg38UCSC Ensembl
Outerchr3:194354415..194362815hg38UCSC Ensembl
chr3:194075164..194083523hg19UCSC Ensembl
Innerchr3:194075185..194083503hg19UCSC Ensembl
Outerchr3:194075144..194083544hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg388360
hg198360
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599194
Supporting Variants
SamplesNA18757
Known GenesLRRC15
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11283740
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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