A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8693481



Internal ID15073029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:20218210..20219108hg38UCSC Ensembl
Innerchr2:20218209..20219109hg38UCSC Ensembl
Outerchr2:20217210..20220108hg38UCSC Ensembl
chr2:20417971..20418869hg19UCSC Ensembl
Innerchr2:20417970..20418870hg19UCSC Ensembl
Outerchr2:20416971..20419869hg19UCSC Ensembl
chr2:20281452..20282350hg18UCSC Ensembl
Innerchr2:20282351..20281451hg18UCSC Ensembl
Outerchr2:20280452..20283350hg18UCSC Ensembl
Cytoband2p24.1
Allele length
AssemblyAllele length
hg38899
hg19899
hg18899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3402038
Supporting Variants
SamplesNA19239
Known GenesSDC1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8693481
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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