A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5867558



Internal ID9536705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:10411819..10417675hg38UCSC Ensembl
Outerchr2:10411785..10417710hg38UCSC Ensembl
Innerchr2:10551945..10557801hg19UCSC Ensembl
Outerchr2:10551911..10557836hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg385926
hg195926
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2666433
Supporting Variants
SamplesNA19066
Known GenesHPCAL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5867558
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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