A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852306



Internal ID10250557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:58726345..58726730hg38UCSC Ensembl
Outerchr17:56803706..56804091hg19UCSC Ensembl
Cytoband17q22
Allele length
AssemblyAllele length
hg38386
hg19386
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716079
Supporting Variants
SamplesSSM086
Known GenesRAD51C
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)essv6852306
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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