A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991871



Internal ID4671203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:11977944..11979571hg38UCSC Ensembl
Innerchr19:11977950..11979565hg38UCSC Ensembl
Outerchr19:11977938..11979577hg38UCSC Ensembl
chr19:12088759..12090386hg19UCSC Ensembl
Innerchr19:12088765..12090380hg19UCSC Ensembl
Outerchr19:12088753..12090392hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381628
hg191628
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643688
Supporting Variants
SamplesHG04198
Known GenesZNF763
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991871
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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