A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3424178



Internal ID15271135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119989206..120095826hg38UCSC Ensembl
Innerchr1:119990206..120094826hg38UCSC Ensembl
Outerchr1:119988206..120096825hg38UCSC Ensembl
chr1:120531829..120638427hg19UCSC Ensembl
Innerchr1:120532829..120637427hg19UCSC Ensembl
Outerchr1:120530829..120639427hg19UCSC Ensembl
chr1:120333352..120439950hg18UCSC Ensembl
Innerchr1:120334352..120438950hg18UCSC Ensembl
Outerchr1:120332352..120440950hg18UCSC Ensembl
Cytoband1p11.2
Allele length
AssemblyAllele length
hg38106621
hg19106599
hg18106599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv167e59
Supporting Variantsessv8691762
SamplesNA12892
Known GenesNOTCH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3424178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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