A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2731190



Internal ID9965507
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 StatusM
Merged Variants
Supporting Variantsessv6907405, essv6956796, essv6670946
SamplesSSM031, SSM026, SSM014
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)esv2731190
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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