A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730574



Internal ID10314210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:107556884..107557810hg38UCSC Ensembl
Outerchr5:106892585..106893511hg19UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38927
hg19927
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6956686, essv6739805, essv6875532, essv6702377, essv6903558, essv6742978, essv6774441, essv6824476, essv6951691, essv6914923, essv6841055, essv6667439, essv6886442
SamplesSSM013, SSM092, SSM084, SSM026, SSM066, SSM006, SSM016, SSM053, SSM010, SSM025, SSM052, SSM030, SSM012
Known GenesEFNA5
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)esv2730574
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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