A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744352



Internal ID9978636
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:15859412..15866564hg38UCSC Ensembl
Outerchr1:16185907..16193059hg19UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg387153
hg197153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6801154, essv6761854, essv6731930
SamplesSSM002, SSM062, SSM001
Known GenesSPEN
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)esv2744352
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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