A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972335



Internal ID9732368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:12911429..13187357hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg19275929
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2743953, esv2743931, esv2743886
Supporting Variants
SamplesSSM029
Known GenesHNRNPCP5, PRAMEF10, PRAMEF2, PRAMEF22, PRAMEF23, PRAMEF4, PRAMEF5, PRAMEF6, PRAMEF7, PRAMEF8
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)essv6972335
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