A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714995



Internal ID10298631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:95162138..95214456hg38UCSC Ensembl
Outerchr1:95627694..95680012hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3852319
hg1952319
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6843947, essv6785242, essv6877409, essv6766602, essv6785072
SamplesSSM064, SSM009, SSM069, SSM085, SSM012
Known GenesTMEM56, TMEM56-RWDD3
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)esv2714995
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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