A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727522



Internal ID9961832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:46045696..46045876hg38UCSC Ensembl
Outerchr4:46047713..46047893hg19UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6872319
SamplesSSM091
Known GenesGABRG1
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)esv2727522
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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