A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3401180



Internal ID15248143
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22455764..22455764hg38UCSC Ensembl
Innerchr1:22455763..22455765hg38UCSC Ensembl
Outerchr1:22455714..22455814hg38UCSC Ensembl
chr1:22782257..22782257hg19UCSC Ensembl
Innerchr1:22782256..22782258hg19UCSC Ensembl
Outerchr1:22782207..22782307hg19UCSC Ensembl
chr1:22654844..22654844hg18UCSC Ensembl
Innerchr1:22654845..22654843hg18UCSC Ensembl
Outerchr1:22654794..22654894hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38102
hg19102
hg18102
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701365
SamplesNA12878
Known GenesZBTB40
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3401180
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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