A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716496



Internal ID10300132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:114774374..114776331hg38UCSC Ensembl
Outerchr1:115316995..115318952hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg381958
hg191958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6844587, essv6697048
SamplesSSM011, SSM038
Known GenesSIKE1
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)esv2716496
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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