A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727301



Internal ID10310937
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:24436525..24436969hg38UCSC Ensembl
Outerchr4:24438148..24438592hg19UCSC Ensembl
Cytoband4p15.2
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6973776, essv6679902, essv6910808
SamplesSSM029, SSM033, SSM015
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)esv2727301
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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