A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592167



Internal ID6632450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:119401097..119522758hg38UCSC Ensembl
chr2:120158673..120280334hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg38121662
hg19121662
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10640932
SamplesHG01767
Known GenesSCTR, TMEM37
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592167
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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