A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10598208



Internal ID2322910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:102381919..102383135hg38UCSC Ensembl
Innerchr2:102381926..102383129hg38UCSC Ensembl
Outerchr2:102381913..102383142hg38UCSC Ensembl
chr2:102998379..102999595hg19UCSC Ensembl
Innerchr2:102998386..102999589hg19UCSC Ensembl
Outerchr2:102998373..102999602hg19UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg381217
hg191217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3591790
Supporting Variants
SamplesHG02069
Known GenesIL18R1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10598208
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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