A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306594



Internal ID14806856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33179655..33179656hg38UCSC Ensembl
Innerchr2:33179627..33179684hg38UCSC Ensembl
Outerchr2:33179626..33179685hg38UCSC Ensembl
chr2:33404722..33404723hg19UCSC Ensembl
Innerchr2:33404694..33404751hg19UCSC Ensembl
Outerchr2:33404693..33404752hg19UCSC Ensembl
chr2:33258226..33258227hg18UCSC Ensembl
Innerchr2:33258255..33258198hg18UCSC Ensembl
Outerchr2:33258197..33258256hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38265
hg19265
hg18265
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7742257, essv7755008, essv7747734, essv7760306, essv7747214, essv7761667, essv7749232, essv7745430, essv7752929, essv7745886, essv7750557, essv7760444, essv7741694, essv7753445
SamplesNA18523, NA19114, NA19257, NA18505, NA19147, NA18856, NA11831, NA19238, NA18502, NA19116, NA19099, NA19225, NA19240, NA18519
Known GenesLTBP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306594
Frequency
Sample Size185
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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