A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604889



Internal ID6991917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43085652..43088896hg38UCSC Ensembl
Innerchr5:43085680..43088868hg38UCSC Ensembl
Outerchr5:43085624..43088924hg38UCSC Ensembl
chr5:43085754..43088998hg19UCSC Ensembl
Innerchr5:43085782..43088970hg19UCSC Ensembl
Outerchr5:43085726..43089026hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg383245
hg193245
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11884316, essv11884290, essv11884325, essv11884292, essv11884319, essv11884287, essv11884326, essv11884293, essv11884301, essv11884315, essv11884312, essv11884302, essv11884308, essv11884313, essv11884321, essv11884320, essv11884322, essv11884311, essv11884297, essv11884295, essv11884323, essv11884299, essv11884310, essv11884317, essv11884296, essv11884318, essv11884291, essv11884294, essv11884289, essv11884306, essv11884305, essv11884307, essv11884304, essv11884314, essv11884298, essv11884288, essv11884324, essv11884303, essv11884300, essv11884309
SamplesHG03096, HG03484, HG02583, NA19914, HG01052, HG03057, HG03558, NA19393, HG03577, HG03172, HG02589, HG03572, NA19379, NA19315, HG03452, NA19916, NA19041, HG02885, HG03073, NA18867, HG03169, NA19908, HG03054, NA19707, HG02450, HG03476, HG03078, HG02881, HG03024, HG02666, HG02332, HG02586, HG02896, HG02983, NA19144, HG03565, HG03538, NA19030, HG02947, NA19430
Known GenesLOC100506639
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604889
Frequency
Sample Size2504
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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