A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659833



Internal ID9579252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:232338776..232449522hg38UCSC Ensembl
chr2:233203486..233314232hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38110747
hg19110747
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5991008
SamplesNA20533
Known GenesALPP, ALPPL2, DIS3L2, ECEL1P2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659833
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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