A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722595



Internal ID9956895
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:214294975..214295513hg38UCSC Ensembl
Outerchr1:214468318..214468856hg19UCSC Ensembl
Cytoband1q32.3
Allele length
AssemblyAllele length
hg38539
hg19539
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6707402
SamplesSSM041
Known GenesSMYD2
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)esv2722595
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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