A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5583076



Internal ID9564909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13111300..13120043hg38UCSC Ensembl
chr1:13178772..13187516hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg388744
hg198745
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2675846
Supporting Variants
SamplesNA19108
Known GenesHNRNPCP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5583076
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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