A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644848



Internal ID7031599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:55796742..55798101hg38UCSC Ensembl
Innerchr19:55796742..55798101hg38UCSC Ensembl
Outerchr19:55796480..55798374hg38UCSC Ensembl
chr19:56308108..56309467hg19UCSC Ensembl
Innerchr19:56308108..56309467hg19UCSC Ensembl
Outerchr19:56307846..56309740hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg381360
hg191360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16100743, essv16100742
SamplesHG00613, NA18546
Known GenesNLRP11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644848
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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