A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6951323



Internal ID9713245
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:2019561..2959568hg38UCSC Ensembl
Outerchr4:2021288..2961295hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38940008
hg19940008
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726835
Supporting Variants
SamplesSSM025
Known GenesADD1, C4orf48, FAM193A, HAUS3, LOC402160, MFSD10, MIR4800, MXD4, NAT8L, NOP14, NOP14-AS1, POLN, RNF4, SH3BP2, TNIP2, ZFYVE28
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)essv6951323
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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