A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727204



Internal ID10310840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14389434..14389680hg38UCSC Ensembl
Outerchr4:14391058..14391304hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg38247
hg19247
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6918202, essv6700435, essv6822021, essv6781663, essv6962775, essv6704495, essv6883209, essv6923152, essv6968764, essv6903209, essv6813828, essv6850364, essv6844489, essv6951355, essv6798268
SamplesSSM027, SSM011, SSM039, SSM013, SSM028, SSM017, SSM003, SSM085, SSM068, SSM040, SSM072, SSM077, SSM010, SSM025, SSM012
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)esv2727204
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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