A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16041373



Internal ID6043189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:33160915..33161752hg38UCSC Ensembl
Innerchr19:33160915..33161752hg38UCSC Ensembl
Outerchr19:33160558..33162136hg38UCSC Ensembl
chr19:33651821..33652658hg19UCSC Ensembl
Innerchr19:33651821..33652658hg19UCSC Ensembl
Outerchr19:33651464..33653042hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38838
hg19838
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644183
Supporting Variants
SamplesNA18747
Known GenesWDR88
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16041373
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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