A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965727



Internal ID10069967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5212037..5212186hg38UCSC Ensembl
Outerchr12:5321203..5321352hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745458, esv2745460, esv2745457
Supporting Variants
SamplesSSM027
Known Genes
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)essv6965727
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