A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390875



Internal ID14891156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:148590430..148701897hg38UCSC Ensembl
Innerchr1:148591430..148700899hg38UCSC Ensembl
Outerchr1:148589430..148702897hg38UCSC Ensembl
chr1:145186995..145298693hg19UCSC Ensembl
Innerchr1:145187995..145297693hg19UCSC Ensembl
Outerchr1:145185995..145299693hg19UCSC Ensembl
chr1:143898352..144010050hg18UCSC Ensembl
Innerchr1:143899352..144009050hg18UCSC Ensembl
Outerchr1:143897352..144011050hg18UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg38111468
hg19111699
hg18111699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv201e59
Supporting Variantsessv8691925
SamplesNA12891
Known GenesLOC100288142, LOC101929780, NBPF10, NBPF12, NBPF9, NOTCH2NL
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390875
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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