A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2726831



Internal ID9961139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:1672186..1672303hg38UCSC Ensembl
Outerchr4:1673913..1674030hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38118
hg19118
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6854335, essv6670130, essv6955989
SamplesSSM031, SSM087, SSM026
Known GenesFAM53A
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)esv2726831
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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