A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593072



Internal ID6980396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:158279664..158293168hg38UCSC Ensembl
chr2:159136176..159149680hg19UCSC Ensembl
Cytoband2q24.1
Allele length
AssemblyAllele length
hg3813505
hg1913505
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10726933
SamplesNA19328
Known GenesCCDC148
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593072
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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