A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6700655



Internal ID9766813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:177235697..177235989hg38UCSC Ensembl
Outerchr4:178156851..178157143hg19UCSC Ensembl
Cytoband4q34.3
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728786, esv2728772
Supporting Variants
SamplesSSM039
Known Genes
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)essv6700655
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