A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16098220



Internal ID6100036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54752886..54856116hg38UCSC Ensembl
Innerchr19:54753386..54855616hg38UCSC Ensembl
Outerchr19:54751886..54857116hg38UCSC Ensembl
chr19:55264338..55367571hg19UCSC Ensembl
Innerchr19:55264838..55367071hg19UCSC Ensembl
Outerchr19:55263338..55368571hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38103231
hg19103234
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644815
Supporting Variants
SamplesHG01167
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16098220
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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