A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728510



Internal ID3279006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148390217..148390362hg38UCSC Ensembl
Outerchr4:149311369..149311514hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38146
hg19146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6700611
SamplesSSM039
Known GenesNR3C2
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)esv2728510
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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