A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv443e201



Internal ID22759801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:82981880..82982431hg38UCSC Ensembl
chr17:80939756..80940307hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38552
hg19552
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716579, esv2716581, esv2716580
SamplesSSM083, SSM071, SSM046, SSM065, SSM013, SSM026, SSM031, SSM067, SSM044, SSM033, SSM066, SSM072, SSM080, SSM037, SSM025, SSM034, SSM012
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)dgv443e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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