A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1007795



Internal ID7072889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:34539569..34564251hg38UCSC Ensembl
Outerchr14:35008775..35033457hg19UCSC Ensembl
Outerchr14:34078526..34103208hg18UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3824683
hg1924683
hg1824683
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564405
SamplesHuRef
Known GenesEAPP, SNX6
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1007795
Frequency
Sample Size3
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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