A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11143206



Internal ID3399223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129209179..129215633hg38UCSC Ensembl
Innerchr3:129209679..129215133hg38UCSC Ensembl
Outerchr3:129208179..129216633hg38UCSC Ensembl
chr3:128928022..128934476hg19UCSC Ensembl
Innerchr3:128928522..128933976hg19UCSC Ensembl
Outerchr3:128927022..128935476hg19UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg386455
hg196455
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597735
Supporting Variants
SamplesHG03048
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11143206
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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