A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16031624



Internal ID2444064
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:29089450..29116139hg38UCSC Ensembl
Innerchr19:29089450..29116139hg38UCSC Ensembl
Outerchr19:29088950..29116639hg38UCSC Ensembl
chr19:29580357..29607046hg19UCSC Ensembl
Innerchr19:29580357..29607046hg19UCSC Ensembl
Outerchr19:29579857..29607546hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3826690
hg1926690
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644117
Supporting Variants
SamplesHG02152
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16031624
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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