A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721884



Internal ID9956182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471150..204471343hg38UCSC Ensembl
Outerchr1:204440278..204440471hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38194
hg19194
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961794, essv6864149, essv6847269
SamplesSSM027, SSM086, SSM089
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)esv2721884
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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