A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6851318



Internal ID9902982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:124339584..124339716hg38UCSC Ensembl
Outerchr12:124824130..124824262hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2746527, esv2746528
Supporting Variants
SamplesSSM086
Known GenesNCOR2
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)essv6851318
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