A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6086906



Internal ID9064309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:40476750..40477852hg38UCSC Ensembl
Outerchr19:40476593..40478005hg38UCSC Ensembl
Innerchr19:40982657..40983759hg19UCSC Ensembl
Outerchr19:40982500..40983912hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381413
hg191413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2676684
Supporting Variants
SamplesNA19355
Known GenesSPTBN4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv6086906
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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