A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv608e201



Internal ID20125495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:97768674..97769342hg38UCSC Ensembl
chr2:98385137..98385805hg19UCSC Ensembl
Cytoband2q11.2
Allele length
AssemblyAllele length
hg38669
hg19669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2720424, esv2720426
SamplesSSM027, SSM065, SSM028, SSM092, SSM090, SSM021, SSM029, SSM096, SSM017, SSM019, SSM001, SSM020, SSM007, SSM078, SSM016, SSM022, SSM010, SSM055, SSM025, SSM004, SSM052, SSM012
Known GenesTMEM131
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)dgv608e201
Frequency
Sample Size96
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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