A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11308507



Internal ID515357
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196615195..196616380hg38UCSC Ensembl
Innerchr3:196615212..196616364hg38UCSC Ensembl
Outerchr3:196615179..196616397hg38UCSC Ensembl
chr3:196342066..196343251hg19UCSC Ensembl
Innerchr3:196342083..196343235hg19UCSC Ensembl
Outerchr3:196342050..196343268hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381186
hg191186
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599290
Supporting Variants
SamplesHG00185
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11308507
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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