A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863742



Internal ID12969518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111698943..111698985hg38UCSC Ensembl
Innerchr1:111698945..111698983hg38UCSC Ensembl
Outerchr1:111698941..111698987hg38UCSC Ensembl
chr1:112241565..112241607hg19UCSC Ensembl
Innerchr1:112241567..112241605hg19UCSC Ensembl
Outerchr1:112241563..112241609hg19UCSC Ensembl
chr1:112043088..112043130hg18UCSC Ensembl
Innerchr1:112043090..112043128hg18UCSC Ensembl
Outerchr1:112043086..112043132hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3394544
Supporting Variants
SamplesNA12005
Known GenesRAP1A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863742
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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