A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727619



Internal ID3278115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54711638..54711862hg38UCSC Ensembl
Outerchr4:55577804..55578028hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6848301, essv6914675, essv6854447
SamplesSSM086, SSM016, SSM087
Known GenesKIT
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)esv2727619
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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