A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15988763



Internal ID2311436
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8180893..8187973hg38UCSC Ensembl
Innerchr19:8180945..8187922hg38UCSC Ensembl
Outerchr19:8180842..8188025hg38UCSC Ensembl
chr19:8245777..8252857hg19UCSC Ensembl
Innerchr19:8245829..8252806hg19UCSC Ensembl
Outerchr19:8245726..8252909hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg387081
hg197081
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643610
Supporting Variants
SamplesHG02058
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15988763
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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