A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16052156



Internal ID6053972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:37968462..37976634hg38UCSC Ensembl
Innerchr19:37968462..37976634hg38UCSC Ensembl
Outerchr19:37968281..37976788hg38UCSC Ensembl
chr19:38459102..38467274hg19UCSC Ensembl
Innerchr19:38459102..38467274hg19UCSC Ensembl
Outerchr19:38458921..38467428hg19UCSC Ensembl
Cytoband19q13.13
Allele length
AssemblyAllele length
hg388173
hg198173
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644300
Supporting Variants
SamplesHG03045
Known GenesSIPA1L3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16052156
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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