A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692202



Internal ID15066606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:244182127..244184025hg38UCSC Ensembl
Innerchr1:244183025..244183127hg38UCSC Ensembl
Outerchr1:244181127..244185025hg38UCSC Ensembl
chr1:244345429..244347327hg19UCSC Ensembl
Innerchr1:244346327..244346429hg19UCSC Ensembl
Outerchr1:244344429..244348327hg19UCSC Ensembl
chr1:242412052..242413950hg18UCSC Ensembl
Innerchr1:242413052..242412950hg18UCSC Ensembl
Outerchr1:242411052..242414950hg18UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3397399
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692202
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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