A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304423



Internal ID14804685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:161908739..161908740hg38UCSC Ensembl
Innerchr2:161908707..161908772hg38UCSC Ensembl
Outerchr2:161908706..161908773hg38UCSC Ensembl
chr2:162765249..162765250hg19UCSC Ensembl
Innerchr2:162765217..162765282hg19UCSC Ensembl
Outerchr2:162765216..162765283hg19UCSC Ensembl
chr2:162473495..162473496hg18UCSC Ensembl
Innerchr2:162473528..162473463hg18UCSC Ensembl
Outerchr2:162473462..162473529hg18UCSC Ensembl
Cytoband2q24.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7754793, essv7742361, essv7756475
SamplesNA18861, NA18912, NA18519
Known GenesSLC4A10
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304423
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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