A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992019



Internal ID7077693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:137498047..137502612hg38UCSC Ensembl
Outerchr9:140392499..140397064hg19UCSC Ensembl
Outerchr9:139512320..139516885hg18UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382664
hg192664
hg182664
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565516
SamplesHuRef
Known GenesPNPLA7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992019
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer