A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3608450



Internal ID6995379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:28050316..28054076hg38UCSC Ensembl
Innerchr6:28050316..28054076hg38UCSC Ensembl
Outerchr6:28050138..28054260hg38UCSC Ensembl
chr6:28018094..28021854hg19UCSC Ensembl
Innerchr6:28018094..28021854hg19UCSC Ensembl
Outerchr6:28017916..28022038hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg383761
hg193761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12238954, essv12238960, essv12238948, essv12238949, essv12238959, essv12238953, essv12238957, essv12238962, essv12238955, essv12238956, essv12238961, essv12238951, essv12238952, essv12238950, essv12238958, essv12238963
SamplesNA12717, NA12273, HG04060, NA11920, HG03926, HG04164, HG04238, HG01605, NA19403, HG04017, HG01204, HG03778, HG04026, NA07051, HG01432, HG02147
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3608450
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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