A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730225



Internal ID9964541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58977740..58978728hg38UCSC Ensembl
Outerchr5:58273567..58274555hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg38989
hg19989
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817910, essv6865315, essv6907272, essv6974364, essv6670769, essv6884017, essv6667424, essv6751410, essv6702221
SamplesSSM057, SSM029, SSM089, SSM031, SSM014, SSM006, SSM078, SSM095, SSM030
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)esv2730225
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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