A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10823169



Internal ID3887579
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593981
Supporting Variants
SamplesHG03538
Known GenesALS2CR11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10823169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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