A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594432



Internal ID6634708
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222867977..222878862hg38UCSC Ensembl
Innerchr2:222867977..222878862hg38UCSC Ensembl
Outerchr2:222867477..222879362hg38UCSC Ensembl
chr2:223732695..223743580hg19UCSC Ensembl
Innerchr2:223732695..223743580hg19UCSC Ensembl
Outerchr2:223732195..223744080hg19UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg3810886
hg1910886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10862324
SamplesNA20866
Known GenesACSL3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594432
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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