A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728714



Internal ID9963029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:168575289..168575468hg38UCSC Ensembl
Outerchr4:169496440..169496619hg19UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38180
hg19180
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6957651, essv6675821, essv6947444
SamplesSSM024, SSM005, SSM004
Known GenesPALLD
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)esv2728714
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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