A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721029



Internal ID10304665
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:196768192..196889169hg38UCSC Ensembl
Outerchr1:196737322..196858299hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38120978
hg19120978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv42e201
Supporting Variantsessv6785138, essv6817887, essv6889142, essv6785137, essv6937816, essv6917941, essv6761945, essv6968089, essv6825130, essv6738950, essv6696732, essv6679316
SamplesSSM097, SSM028, SSM069, SSM062, SSM003, SSM033, SSM006, SSM080, SSM022, SSM010, SSM052
Known GenesCFHR1, CFHR3, CFHR4
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)esv2721029
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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