A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5956667



Internal ID9260465
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:141566047..141570953hg38UCSC Ensembl
Outerchr2:141565676..141571323hg38UCSC Ensembl
Innerchr2:142323616..142328522hg19UCSC Ensembl
Outerchr2:142323245..142328892hg19UCSC Ensembl
Cytoband2q22.2
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2658084
Supporting Variants
SamplesNA12282
Known GenesLRP1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5956667
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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