A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749624



Internal ID9983908
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:42569613..42595203hg38UCSC Ensembl
Outerchr15:42861811..42887401hg19UCSC Ensembl
Cytoband15q15.2
Allele length
AssemblyAllele length
hg3825591
hg1925591
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6668416
SamplesSSM030
Known GenesHAUS2, STARD9
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)esv2749624
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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