A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071060



Internal ID1352380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47767766..47774956hg38UCSC Ensembl
Innerchr19:47767766..47774956hg38UCSC Ensembl
Outerchr19:47767462..47775257hg38UCSC Ensembl
chr19:48271023..48278213hg19UCSC Ensembl
Innerchr19:48271023..48278213hg19UCSC Ensembl
Outerchr19:48270719..48278514hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg387191
hg197191
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644560
Supporting Variants
SamplesHG01190
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071060
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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