A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10344125



Internal ID1176307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:239495772..239500401hg38UCSC Ensembl
Innerchr1:239495772..239500401hg38UCSC Ensembl
Outerchr1:239495608..239500493hg38UCSC Ensembl
chr1:239659072..239663701hg19UCSC Ensembl
Innerchr1:239659072..239663701hg19UCSC Ensembl
Outerchr1:239658908..239663793hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg384630
hg194630
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3589277
Supporting Variants
SamplesHG01055
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10344125
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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