A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11178373



Internal ID1180189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148892284..148898237hg38UCSC Ensembl
Innerchr3:148892284..148898237hg38UCSC Ensembl
Outerchr3:148891784..148898737hg38UCSC Ensembl
chr3:148610071..148616024hg19UCSC Ensembl
Innerchr3:148610071..148616024hg19UCSC Ensembl
Outerchr3:148609571..148616524hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg385954
hg195954
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598135
Supporting Variants
SamplesHG02188
Known GenesCPA3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11178373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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