A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616237



Internal ID7003124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11129742..11135195hg38UCSC Ensembl
Innerchr8:11129742..11135195hg38UCSC Ensembl
Outerchr8:11129570..11135351hg38UCSC Ensembl
chr8:10987252..10992705hg19UCSC Ensembl
Innerchr8:10987252..10992705hg19UCSC Ensembl
Outerchr8:10987080..10992861hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg385454
hg195454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13102265, essv13102264, essv13102261, essv13102262, essv13102267, essv13102266, essv13102263
SamplesNA18917, NA19448, HG02573, HG02715, HG03124, HG01130, HG02053
Known GenesXKR6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616237
Frequency
Sample Size2504
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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