A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746939



Internal ID9981223
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132291139..132291448hg38UCSC Ensembl
Outerchr12:132867725..132868034hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38310
hg19310
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6940450, essv6924454, essv6882400, essv6920310, essv6831402, essv6823735, essv6842541, essv6894748
SamplesSSM022, SSM084, SSM094, SSM017, SSM079, SSM098, SSM018, SSM081
Known GenesGALNT9
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2746939
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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