A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3343184



Internal ID15190169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:120069815..120095626hg38UCSC Ensembl
Innerchr1:120070815..120094626hg38UCSC Ensembl
Outerchr1:120068815..120096625hg38UCSC Ensembl
chr1:120612429..120638227hg19UCSC Ensembl
Innerchr1:120613429..120637227hg19UCSC Ensembl
Outerchr1:120611429..120639227hg19UCSC Ensembl
chr1:120413952..120439750hg18UCSC Ensembl
Innerchr1:120414952..120438750hg18UCSC Ensembl
Outerchr1:120412952..120440750hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg3825812
hg1925799
hg1825799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691768
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3343184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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