A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730234



Internal ID10313870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:59434004..59434221hg38UCSC Ensembl
Outerchr5:58729830..58730047hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38218
hg19218
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6670771, essv6854886, essv6865316, essv6837218, essv6860533, essv6907275, essv6956631
SamplesSSM083, SSM087, SSM088, SSM026, SSM089, SSM031, SSM014
Known GenesPDE4D
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)esv2730234
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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