A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749596



Internal ID10330566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:40061160..40061646hg38UCSC Ensembl
Outerchr15:40353361..40353847hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg38487
hg19487
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6775731, essv6728685, essv6831702
SamplesSSM008, SSM046, SSM081
Known GenesSRP14-AS1
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)esv2749596
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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