A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727409



Internal ID10311045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:36650488..36651629hg38UCSC Ensembl
Outerchr4:36652110..36653251hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg381142
hg191142
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962807, essv6915484, essv6670217, essv6757032, essv6745513, essv6742706, essv6733995, essv6767112, essv6956088, essv6736562, essv6759619
SamplesSSM059, SSM027, SSM064, SSM050, SSM061, SSM026, SSM031, SSM001, SSM053, SSM055, SSM049
Known Genes
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)esv2727409
Frequency
Sample Size96
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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