A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2728241



Internal ID10311877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:119944359..119945442hg38UCSC Ensembl
Outerchr4:120865514..120866597hg19UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6822048, essv6726728, essv6889807, essv6851919, essv6875378
SamplesSSM046, SSM011, SSM079, SSM097, SSM092
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)esv2728241
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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