A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996348



Internal ID7080543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:122709016..122734902hg38UCSC Ensembl
Outerchr2:123466592..123492478hg19UCSC Ensembl
Outerchr2:123183062..123208948hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg3825887
hg1925887
hg1825887
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564318
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996348
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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