A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6726830



Internal ID10137629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:628881..629031hg38UCSC Ensembl
Outerchr5:628996..629146hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38151
hg19151
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2729333, esv2729334
Supporting Variants
SamplesSSM046
Known GenesCEP72
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)essv6726830
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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