A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2727423



Internal ID10311059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:37330854..37331015hg38UCSC Ensembl
Outerchr4:37332476..37332637hg19UCSC Ensembl
Cytoband4p14
Allele length
AssemblyAllele length
hg38162
hg19162
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6810881, essv6817498, essv6670219, essv6711342, essv6864913, essv6854414
SamplesSSM087, SSM042, SSM089, SSM031, SSM078, SSM076
Known GenesKIAA1239
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)esv2727423
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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