A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5981440



Internal ID8990098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:110496585..110496726hg38UCSC Ensembl
Outerchr13:110496548..110496776hg38UCSC Ensembl
Innerchr13:111148932..111149073hg19UCSC Ensembl
Outerchr13:111148895..111149123hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg38229
hg19229
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2667779
Supporting Variants
SamplesHG00584
Known GenesCOL4A2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5981440
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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