A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727202



Internal ID10310838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:14187133..14187210hg38UCSC Ensembl
Outerchr4:14188757..14188834hg19UCSC Ensembl
Cytoband4p15.33
Allele length
AssemblyAllele length
hg3878
hg1978
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6962774, essv6956046, essv6860099
SamplesSSM027, SSM088, SSM026
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)esv2727202
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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