A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991950



Internal ID4798506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12292300..12294047hg38UCSC Ensembl
Innerchr19:12292301..12294046hg38UCSC Ensembl
Outerchr19:12292299..12294048hg38UCSC Ensembl
chr19:12403115..12404862hg19UCSC Ensembl
Innerchr19:12403116..12404861hg19UCSC Ensembl
Outerchr19:12403114..12404863hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg381748
hg191748
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643696
Supporting Variants
SamplesNA11932
Known GenesZNF44
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991950
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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