A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732620



Internal ID9966939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:117923954..117924145hg38UCSC Ensembl
Outerchr6:118245117..118245308hg19UCSC Ensembl
Cytoband6q22.1
Allele length
AssemblyAllele length
hg38192
hg19192
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6719523
SamplesSSM044
Known GenesSLC35F1
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)esv2732620
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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