A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747663



Internal ID10328633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:43905403..43905824hg38UCSC Ensembl
Outerchr1:44371075..44371496hg19UCSC Ensembl
Cytoband1p34.1
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6889025, essv6785017
SamplesSSM097, SSM069
Known GenesST3GAL3
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)esv2747663
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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