A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6367654



Internal ID9351123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40481723..40485059hg38UCSC Ensembl
Outerchr19:40481686..40485109hg38UCSC Ensembl
Innerchr19:40987630..40990966hg19UCSC Ensembl
Outerchr19:40987593..40991016hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg383424
hg193424
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2667159
Supporting Variants
SamplesNA18546
Known GenesSPTBN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6367654
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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