A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954991



Internal ID9717178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471149..204471640hg38UCSC Ensembl
Outerchr1:204440277..204440768hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38492
hg19492
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2721851, esv2721873
Supporting Variants
SamplesSSM026
Known GenesPIK3C2B
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)essv6954991
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