A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743763



Internal ID10324733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:11928582..11933355hg38UCSC Ensembl
Outerchr1:11988639..11993412hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg384774
hg194774
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6917415, essv6733477, essv6946487, essv6961545, essv6967920, essv6847005, essv6892315, essv6722000
SamplesSSM027, SSM024, SSM045, SSM028, SSM017, SSM086, SSM098, SSM049
Known Genes
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)esv2743763
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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