A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10011448



Internal ID3510766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:89593477..89694051hg38UCSC Ensembl
Innerchr1:89593627..89693901hg38UCSC Ensembl
Outerchr1:89593327..89694201hg38UCSC Ensembl
chr1:90059036..90159610hg19UCSC Ensembl
Innerchr1:90059186..90159460hg19UCSC Ensembl
Outerchr1:90058886..90159760hg19UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38100575
hg19100575
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3586769
Supporting Variants
SamplesHG03112
Known GenesFLJ27354, LRRC8B, LRRC8C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10011448
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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