A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv395e201



Internal ID22759753
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:942509..943012hg38UCSC Ensembl
chr17:845749..846252hg19UCSC Ensembl
Cytoband17p13.3
Allele length
AssemblyAllele length
hg38504
hg19504
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741948, esv2742080, esv2742671, esv2742767, esv2743056, esv2740717
SamplesSSM073, SSM002, SSM029, SSM078, SSM022, SSM012
Known GenesNXN
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)dgv395e201
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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