A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10823029



Internal ID824845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201198802..201212212hg38UCSC Ensembl
Innerchr2:201198952..201212062hg38UCSC Ensembl
Outerchr2:201198652..201212362hg38UCSC Ensembl
chr2:202063525..202076935hg19UCSC Ensembl
Innerchr2:202063675..202076785hg19UCSC Ensembl
Outerchr2:202063375..202077085hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3813411
hg1913411
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3593974
Supporting Variants
SamplesNA18638
Known GenesCASP10
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10823029
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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