A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723328



Internal ID9957628
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:222887489..222887796hg38UCSC Ensembl
Outerchr1:223060831..223061138hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38308
hg19308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707410, essv6859394, essv6669229, essv6825159, essv6889162, essv6961814, essv6955015
SamplesSSM027, SSM088, SSM031, SSM097, SSM041, SSM026, SSM080
Known GenesDISP1
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)esv2723328
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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