A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11238508



Internal ID3350177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:178062299..178063766hg38UCSC Ensembl
Innerchr3:178062308..178063758hg38UCSC Ensembl
Outerchr3:178062291..178063775hg38UCSC Ensembl
chr3:177780087..177781554hg19UCSC Ensembl
Innerchr3:177780096..177781546hg19UCSC Ensembl
Outerchr3:177780079..177781563hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg381468
hg191468
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598812
Supporting Variants
SamplesHG02983
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11238508
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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