A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2714984



Internal ID9949269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:95117109..95117456hg38UCSC Ensembl
Outerchr1:95582665..95583012hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6692849
SamplesSSM037
Known GenesTMEM56
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)esv2714984
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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