A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11244287



Internal ID1246103
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:179134429..179142712hg38UCSC Ensembl
Innerchr3:179134429..179142712hg38UCSC Ensembl
Outerchr3:179133929..179143212hg38UCSC Ensembl
chr3:178852217..178860500hg19UCSC Ensembl
Innerchr3:178852217..178860500hg19UCSC Ensembl
Outerchr3:178851717..178861000hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg388284
hg198284
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598834
Supporting Variants
SamplesNA20362
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11244287
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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