A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6720241



Internal ID9784623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:69329930..69330061hg38UCSC Ensembl
Outerchr9:71944846..71944977hg19UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2738536, esv2738537
Supporting Variants
SamplesSSM044
Known GenesFAM189A2
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)essv6720241
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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