A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721873



Internal ID9956171
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:204471149..204471652hg38UCSC Ensembl
Outerchr1:204440277..204440780hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847269, essv6864149, essv6954990, essv6836330, essv6777079, essv6961794, essv6929223, essv6968098, essv6902687, essv6954991, essv6821335, essv6773593
SamplesSSM083, SSM027, SSM079, SSM013, SSM028, SSM026, SSM089, SSM067, SSM086, SSM066, SSM020
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)esv2721873
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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