A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589967



Internal ID6630254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:18572204..18580279hg38UCSC Ensembl
Innerchr2:18572354..18580129hg38UCSC Ensembl
Outerchr2:18572054..18580429hg38UCSC Ensembl
chr2:18753470..18761545hg19UCSC Ensembl
Innerchr2:18753620..18761395hg19UCSC Ensembl
Outerchr2:18753320..18761695hg19UCSC Ensembl
Cytoband2p24.2
Allele length
AssemblyAllele length
hg388076
hg198076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10421812
SamplesNA20872
Known GenesNT5C1B, NT5C1B-RDH14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589967
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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