A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3592934



Internal ID6633217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:152484776..152488404hg38UCSC Ensembl
Innerchr2:152484788..152488392hg38UCSC Ensembl
Outerchr2:152484764..152488416hg38UCSC Ensembl
chr2:153341290..153344918hg19UCSC Ensembl
Innerchr2:153341302..153344906hg19UCSC Ensembl
Outerchr2:153341278..153344930hg19UCSC Ensembl
Cytoband2q23.3
Allele length
AssemblyAllele length
hg383629
hg193629
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10713111
SamplesNA18946
Known GenesFMNL2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3592934
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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