A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907405



Internal ID9673187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:177396382..177396607hg38UCSC Ensembl
Outerchr5:176823383..176823608hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38226
hg19226
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731189, esv2731190
Supporting Variants
SamplesSSM014
Known GenesSLC34A1
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)essv6907405
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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