A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3351441



Internal ID15198422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:169158669..169158702hg38UCSC Ensembl
Innerchr2:169158683..169158688hg38UCSC Ensembl
Outerchr2:169158655..169158716hg38UCSC Ensembl
chr2:170015179..170015212hg19UCSC Ensembl
Innerchr2:170015193..170015198hg19UCSC Ensembl
Outerchr2:170015165..170015226hg19UCSC Ensembl
chr2:169723425..169723458hg18UCSC Ensembl
Innerchr2:169723439..169723444hg18UCSC Ensembl
Outerchr2:169723411..169723472hg18UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg38202
hg19202
hg18202
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909415, essv8909416
SamplesNA18603, NA12249
Known GenesLRP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3351441
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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