A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987350



Internal ID3900952
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7749896..7759458hg38UCSC Ensembl
Innerchr19:7749914..7759441hg38UCSC Ensembl
Outerchr19:7749879..7759476hg38UCSC Ensembl
chr19:7814782..7824344hg19UCSC Ensembl
Innerchr19:7814800..7824327hg19UCSC Ensembl
Outerchr19:7814765..7824362hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg389563
hg199563
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643589
Supporting Variants
SamplesHG03557
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987350
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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