A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618799



Internal ID7005681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:128738881..128752679hg38UCSC Ensembl
Innerchr8:128739381..128752179hg38UCSC Ensembl
Outerchr8:128737881..128753679hg38UCSC Ensembl
chr8:129751127..129764925hg19UCSC Ensembl
Innerchr8:129751627..129764425hg19UCSC Ensembl
Outerchr8:129750127..129765925hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg3813799
hg1913799
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13324521, essv13324520, essv13324546, essv13324532, essv13324523, essv13324525, essv13324536, essv13324544, essv13324548, essv13324529, essv13324530, essv13324528, essv13324534, essv13324543, essv13324552, essv13324526, essv13324527, essv13324531, essv13324535, essv13324524, essv13324551, essv13324522, essv13324545, essv13324555, essv13324554, essv13324533, essv13324547, essv13324537, essv13324549, essv13324550, essv13324542, essv13324539, essv13324553, essv13324541, essv13324540, essv13324538
SamplesNA21110, HG00233, HG00367, HG01531, NA12058, HG00150, NA12400, HG01250, NA12283, HG01063, HG03911, HG01893, NA20539, NA19923, HG03888, HG01369, HG01164, HG00149, HG00268, HG00282, NA20787, HG01789, HG01536, HG00157, NA12827, HG01679, HG01697, HG01625, NA20790, NA20778, NA20803, HG02133, HG01785, NA12890, HG01786, NA21120
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618799
Frequency
Sample Size2504
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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