A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3380375



Internal ID14880648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161908730..161908751hg38UCSC Ensembl
Innerchr2:161908739..161908742hg38UCSC Ensembl
Outerchr2:161908718..161908763hg38UCSC Ensembl
chr2:162765240..162765261hg19UCSC Ensembl
Innerchr2:162765249..162765252hg19UCSC Ensembl
Outerchr2:162765228..162765273hg19UCSC Ensembl
chr2:162473486..162473507hg18UCSC Ensembl
Innerchr2:162473498..162473495hg18UCSC Ensembl
Outerchr2:162473474..162473519hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg38237
hg19237
hg18237
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8909277, essv8909278, essv8909276
SamplesNA18861, NA18912, NA18519
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3380375
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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