A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16098123



Internal ID6099939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54717424..54838844hg38UCSC Ensembl
Innerchr19:54717924..54838344hg38UCSC Ensembl
Outerchr19:54716424..54839844hg38UCSC Ensembl
chr19:55228923..55350299hg19UCSC Ensembl
Innerchr19:55229423..55349799hg19UCSC Ensembl
Outerchr19:55227923..55351299hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38121421
hg19121377
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644814
Supporting Variants
SamplesHG03012
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL3, LOC100287534
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16098123
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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