A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728223



Internal ID10311859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:118890157..118890846hg38UCSC Ensembl
Outerchr4:119811312..119812001hg19UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg38690
hg19690
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6813955, essv6848437, essv6751260, essv6756554, essv6865080
SamplesSSM008, SSM057, SSM089, SSM086, SSM077
Known GenesSYNPO2
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)esv2728223
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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