A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3599511



Internal ID6986557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:6812730..6820723hg38UCSC Ensembl
Innerchr4:6812732..6820721hg38UCSC Ensembl
Outerchr4:6812728..6820725hg38UCSC Ensembl
chr4:6814457..6822450hg19UCSC Ensembl
Innerchr4:6814459..6822448hg19UCSC Ensembl
Outerchr4:6814455..6822452hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg387994
hg197994
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11330345, essv11330342, essv11330332, essv11330347, essv11330329, essv11330344, essv11330350, essv11330338, essv11330346, essv11330333, essv11330325, essv11330328, essv11330330, essv11330348, essv11330337, essv11330341, essv11330335, essv11330323, essv11330331, essv11330326, essv11330336, essv11330334, essv11330349, essv11330343, essv11330340, essv11330339, essv11330327, essv11330324
SamplesHG03690, NA21111, NA20899, HG03738, NA21100, NA21115, HG02688, HG02655, HG03826, NA20889, NA21129, NA21114, NA21105, HG04054, NA21141, HG04189, HG04118, NA21087, NA21117, HG04227, HG02685, NA21126, HG04141, NA21088, HG03849, NA21102, HG03882, HG04161
Known GenesKIAA0232
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3599511
Frequency
Sample Size2504
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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