A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2748456



Internal ID9982740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:21426981..21427708hg38UCSC Ensembl
Outerchr14:21895140..21895867hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38728
hg19728
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6867477, essv6891489, essv6973139, essv6835110, essv6924580, essv6912853, essv6920463, essv6803660, essv6901510, essv6928132, essv6879656, essv6876857, essv6755757, essv6867476, essv6747030, essv6673579, essv6836543, essv6702705, essv6945235, essv6809572, essv6688474, essv6712565, essv6806562, essv6867920, essv6977690, essv6768690, essv6897822, essv6857603, essv6698927, essv6910196, essv6882508, essv6807987, essv6831558, essv6695822, essv6862681, essv6820003
SamplesSSM075, SSM011, SSM064, SSM087, SSM038, SSM097, SSM039, SSM009, SSM073, SSM093, SSM074, SSM088, SSM002, SSM023, SSM058, SSM092, SSM018, SSM029, SSM089, SSM017, SSM019, SSM035, SSM094, SSM031, SSM006, SSM081, SSM082, SSM015, SSM078, SSM037, SSM010, SSM055, SSM004, SSM099, SSM012
Known GenesCHD8
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)esv2748456
Frequency
Sample Size96
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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