A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749600



Internal ID10330570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40418568..40418634hg38UCSC Ensembl
Outerchr15:40710767..40710833hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg3867
hg1967
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6673808
SamplesSSM031
Known GenesIVD
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)esv2749600
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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