A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728526



Internal ID9962840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:150271403..150271658hg38UCSC Ensembl
Outerchr4:151192555..151192810hg19UCSC Ensembl
Cytoband4q31.3
Allele length
AssemblyAllele length
hg38256
hg19256
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6852154, essv6754204, essv6947422
SamplesSSM024, SSM011, SSM058
Known GenesLRBA
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)esv2728526
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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