A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749614



Internal ID9983898
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:41568392..41570227hg38UCSC Ensembl
Outerchr15:41860590..41862425hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg381836
hg191836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6835245, essv6932281, essv6741331, essv6842850, essv6741342
SamplesSSM084, SSM082, SSM020, SSM007
Known GenesTYRO3
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)esv2749614
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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