A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728509



Internal ID3279005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:148309519..148309757hg38UCSC Ensembl
Outerchr4:149230671..149230909hg19UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38239
hg19239
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6686915, essv6683640, essv6808113, essv6670474, essv6693762, essv6918349, essv6934270, essv6922688, essv6704649, essv6884675, essv6767219, essv6790118, essv6774266, essv6903371, essv6951502, essv6910926, essv6947419, essv6700609, essv6926470, essv6907094
SamplesSSM013, SSM040, SSM064, SSM031, SSM035, SSM025, SSM039, SSM024, SSM012, SSM017, SSM066, SSM021, SSM037, SSM034, SSM019, SSM075, SSM015, SSM014, SSM018, SSM070
Known GenesNR3C2
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)esv2728509
Frequency
Sample Size96
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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