A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750240



Internal ID10331210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:79000915..79001451hg38UCSC Ensembl
Outerchr1:79466600..79467136hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38537
hg19537
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937734, essv6699658, essv6749076, essv6793351, essv6853324, essv6917196
SamplesSSM008, SSM071, SSM087, SSM039, SSM003, SSM022
Known GenesELTD1
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)esv2750240
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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