A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728237



Internal ID10311873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119543737..119545123hg38UCSC Ensembl
Outerchr4:120464892..120466278hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg381387
hg191387
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813957
SamplesSSM077
Known GenesPDE5A
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)esv2728237
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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