A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6953225



Internal ID9711015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27558273..27558768hg38UCSC Ensembl
Outerchr12:27711206..27711701hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38496
hg19496
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745664, esv2745669
Supporting Variants
SamplesSSM025
Known GenesPPFIBP1
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)essv6953225
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