A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730227



Internal ID9964543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:58978222..58978318hg38UCSC Ensembl
Outerchr5:58274049..58274145hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3897
hg1997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6817910, essv6865315, essv6907272, essv6670769
SamplesSSM089, SSM031, SSM014, SSM078
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)esv2730227
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer