A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2746108



Internal ID10327078
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:30655008..30655822hg38UCSC Ensembl
Outerchr1:31127855..31128669hg19UCSC Ensembl
Cytoband1p35.2
Allele length
AssemblyAllele length
hg38815
hg19815
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6859206, essv6941802, essv6769538, essv6692788, essv6914011, essv6954769, essv6967949, essv6877675
SamplesSSM065, SSM093, SSM088, SSM023, SSM028, SSM026, SSM016, SSM037
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)esv2746108
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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