A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726717



Internal ID3277213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:856424..856713hg38UCSC Ensembl
Outerchr4:850212..850501hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38290
hg19290
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6836849
SamplesSSM083
Known GenesGAK
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)esv2726717
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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