A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990333



Internal ID5992149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:10375297..10376695hg38UCSC Ensembl
Innerchr19:10375308..10376684hg38UCSC Ensembl
Outerchr19:10375286..10376706hg38UCSC Ensembl
chr19:10485973..10487371hg19UCSC Ensembl
Innerchr19:10485984..10487360hg19UCSC Ensembl
Outerchr19:10485962..10487382hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381399
hg191399
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643653
Supporting Variants
SamplesHG03960
Known GenesTYK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990333
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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