A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3411437



Internal ID14911711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178663421..178663421hg38UCSC Ensembl
Innerchr2:178663420..178663422hg38UCSC Ensembl
Outerchr2:178663371..178663471hg38UCSC Ensembl
chr2:179528148..179528148hg19UCSC Ensembl
Innerchr2:179528147..179528149hg19UCSC Ensembl
Outerchr2:179528098..179528198hg19UCSC Ensembl
chr2:179236393..179236393hg18UCSC Ensembl
Innerchr2:179236394..179236392hg18UCSC Ensembl
Outerchr2:179236343..179236443hg18UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg382100
hg192100
hg182100
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8653274, essv8653276, essv8653273
SamplesNA12892, NA12891, NA12878
Known GenesMIR548N, TTN
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3411437
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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