A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5796632



Internal ID8774035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:112494049..112495316hg38UCSC Ensembl
chr1:113036671..113037938hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2659003
Supporting Variants
SamplesNA18867
Known GenesWNT2B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5796632
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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