A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842389



Internal ID9894945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:1256404..1257201hg38UCSC Ensembl
Outerchr12:1365570..1366367hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38798
hg19798
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745389
Supporting Variants
SamplesSSM084
Known GenesERC1
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)essv6842389
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