A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2730885



Internal ID10314521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147167505..147170744hg38UCSC Ensembl
Outerchr5:146547068..146550307hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg383240
hg193240
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959318, essv6854993, essv6872607, essv6956742, essv6715361, essv6875563, essv6748614, essv6934545, essv6926650, essv6837282, essv6727298, essv6711697, essv6873042, essv6963465, essv6869573, essv6947665
SamplesSSM083, SSM027, SSM024, SSM087, SSM042, SSM002, SSM092, SSM090, SSM021, SSM026, SSM019, SSM007, SSM091, SSM004, SSM043, SSM056
Known Genes
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)esv2730885
Frequency
Sample Size96
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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