A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3593972



Internal ID6634250
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201143394..201156199hg38UCSC Ensembl
Innerchr2:201143544..201156049hg38UCSC Ensembl
Outerchr2:201143244..201156349hg38UCSC Ensembl
chr2:202008117..202020922hg19UCSC Ensembl
Innerchr2:202008267..202020772hg19UCSC Ensembl
Outerchr2:202007967..202021072hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3812806
hg1912806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10823003
SamplesNA18865
Known GenesCFLAR, CFLAR-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3593972
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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