A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv442e201



Internal ID22759800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82976573..82977191hg38UCSC Ensembl
chr17:80934449..80935067hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38619
hg19619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2740752, esv2716575
SamplesSSM059, SSM027, SSM024, SSM075, SSM046, SSM079, SSM039, SSM009, SSM002, SSM023, SSM061, SSM096, SSM062, SSM026, SSM089, SSM032, SSM003, SSM001, SSM081, SSM053, SSM080, SSM037, SSM098, SSM030, SSM063
Known GenesB3GNTL1
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)dgv442e201
Frequency
Sample Size96
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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