A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591182



Internal ID6631466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:69340166..69341730hg38UCSC Ensembl
Innerchr2:69340187..69341710hg38UCSC Ensembl
Outerchr2:69340146..69341751hg38UCSC Ensembl
chr2:69567298..69568862hg19UCSC Ensembl
Innerchr2:69567319..69568842hg19UCSC Ensembl
Outerchr2:69567278..69568883hg19UCSC Ensembl
Cytoband2p13.3
Allele length
AssemblyAllele length
hg381565
hg191565
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10534362, essv10534361
SamplesNA18876, NA19146
Known GenesGFPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591182
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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