A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659081



Internal ID9578500
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:204346346..204346649hg38UCSC Ensembl
Outerchr1:204346189..204346802hg38UCSC Ensembl
Innerchr1:204315474..204315777hg19UCSC Ensembl
Outerchr1:204315317..204315930hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38614
hg19614
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6056447
SamplesNA19085
Known GenesPLEKHA6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659081
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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