A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727507



Internal ID9961817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:246619920..246620613hg38UCSC Ensembl
Outerchr1:246783222..246783915hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38694
hg19694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6699834, essv6892513, essv6929284, essv6718363, essv6889203, essv6933528, essv6813347, essv6773651, essv6785207
SamplesSSM020, SSM039, SSM097, SSM077, SSM066, SSM069, SSM021, SSM044, SSM098
Known GenesCNST
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)esv2727507
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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