A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16100210



Internal ID6102026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54864746..54867927hg38UCSC Ensembl
Innerchr19:54864771..54867902hg38UCSC Ensembl
Outerchr19:54864721..54867952hg38UCSC Ensembl
chr19:55376201..55379382hg19UCSC Ensembl
Innerchr19:55376226..55379357hg19UCSC Ensembl
Outerchr19:55376176..55379407hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383182
hg193182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644821
Supporting Variants
SamplesNA18740
Known GenesKIR3DL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16100210
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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