A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100933



Internal ID4061450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:56262259..56271796hg38UCSC Ensembl
Innerchr19:56262274..56271781hg38UCSC Ensembl
Outerchr19:56262244..56271811hg38UCSC Ensembl
chr19:56773628..56783165hg19UCSC Ensembl
Innerchr19:56773643..56783150hg19UCSC Ensembl
Outerchr19:56773613..56783180hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg389538
hg199538
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644862
Supporting Variants
SamplesHG03697
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100933
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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