A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721862



Internal ID9956160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471148..204471249hg38UCSC Ensembl
Outerchr1:204440276..204440377hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38102
hg19102
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847269, essv6954990, essv6961794, essv6859371, essv6816775
SamplesSSM027, SSM088, SSM026, SSM086, SSM078
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)esv2721862
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer