A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6939929



Internal ID9642114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:132279709..132280197hg38UCSC Ensembl
Outerchr12:132856295..132856783hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38489
hg19489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746936
Supporting Variants
SamplesSSM003
Known GenesGALNT9, LOC100130238
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)essv6939929
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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