A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16031457



Internal ID2443726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:28495305..28565750hg38UCSC Ensembl
Innerchr19:28495305..28565750hg38UCSC Ensembl
Outerchr19:28494805..28566250hg38UCSC Ensembl
chr19:28986212..29056657hg19UCSC Ensembl
Innerchr19:28986212..29056657hg19UCSC Ensembl
Outerchr19:28985712..29057157hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3870446
hg1970446
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644104
Supporting Variants
SamplesHG02152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16031457
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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