A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593981



Internal ID6981303
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201518216..201526108hg38UCSC Ensembl
Innerchr2:201518236..201526088hg38UCSC Ensembl
Outerchr2:201518196..201526128hg38UCSC Ensembl
chr2:202382939..202390831hg19UCSC Ensembl
Innerchr2:202382959..202390811hg19UCSC Ensembl
Outerchr2:202382919..202390851hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg387893
hg197893
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823169
SamplesHG03538
Known GenesALS2CR11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593981
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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