A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6977114



Internal ID9734381
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:7190284..7190818hg38UCSC Ensembl
Outerchr12:7342880..7343414hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38535
hg19535
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2745482
Supporting Variants
SamplesSSM029
Known GenesPEX5
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)essv6977114
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