A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9915295



Internal ID5516372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:39051437..39062890hg38UCSC Ensembl
Innerchr1:39051512..39062816hg38UCSC Ensembl
Outerchr1:39051363..39062965hg38UCSC Ensembl
chr1:39517109..39528562hg19UCSC Ensembl
Innerchr1:39517184..39528488hg19UCSC Ensembl
Outerchr1:39517035..39528637hg19UCSC Ensembl
Cytoband1p34.3
Allele length
AssemblyAllele length
hg3811454
hg1911454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3585781
Supporting Variants
SamplesNA18991
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv9915295
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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