A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749698



Internal ID10330668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:52426862..52427323hg38UCSC Ensembl
Outerchr15:52719059..52719520hg19UCSC Ensembl
Cytoband15q21.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6895021, essv6695988, essv6702855, essv6871039
SamplesSSM039, SSM090, SSM037, SSM098
Known GenesMYO5A
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)esv2749698
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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