A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2721117



Internal ID10304753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:197924893..197925004hg38UCSC Ensembl
Outerchr1:197894023..197894134hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38112
hg19112
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6972616
SamplesSSM029
Known GenesLHX9
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)esv2721117
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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