A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6272583



Internal ID9249986
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54717217..54745170hg38UCSC Ensembl
Outerchr19:54716846..54745540hg38UCSC Ensembl
Innerchr19:55228716..55256622hg19UCSC Ensembl
Outerchr19:55228345..55256992hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3828695
hg1928648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2668465
Supporting Variants
SamplesHG00704
Known GenesKIR2DL3, KIR3DL3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6272583
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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