A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6957451



Internal ID9991028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144313899..144314436hg38UCSC Ensembl
Outerchr4:145235051..145235588hg19UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38538
hg19538
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2728483
Supporting Variants
SamplesSSM004
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)essv6957451
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