A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618544



Internal ID7005426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:116993166..116995942hg38UCSC Ensembl
Innerchr8:116993166..116995942hg38UCSC Ensembl
Outerchr8:116992896..116996150hg38UCSC Ensembl
chr8:118005405..118008181hg19UCSC Ensembl
Innerchr8:118005405..118008181hg19UCSC Ensembl
Outerchr8:118005135..118008389hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg382777
hg192777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13300719, essv13300711, essv13300706, essv13300715, essv13300728, essv13300721, essv13300720, essv13300712, essv13300723, essv13300707, essv13300718, essv13300716, essv13300710, essv13300714, essv13300727, essv13300724, essv13300705, essv13300708, essv13300717, essv13300713, essv13300704, essv13300725, essv13300726, essv13300709, essv13300722
SamplesNA19909, HG02798, HG03455, NA18510, HG02111, NA19383, HG02642, NA20533, NA19451, HG02322, HG02976, HG03078, HG01890, HG02484, HG02722, NA19108, NA19473, HG03117, HG03084, HG03097, HG02053, NA20289, NA19900, HG02052, HG02851
Known GenesSLC30A8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618544
Frequency
Sample Size2504
Observed Gain0
Observed Loss25
Observed Complex0
Frequencyn/a


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