A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3611096



Internal ID6998007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143548189..143551306hg38UCSC Ensembl
Innerchr6:143548189..143551306hg38UCSC Ensembl
Outerchr6:143547998..143551515hg38UCSC Ensembl
chr6:143869326..143872443hg19UCSC Ensembl
Innerchr6:143869326..143872443hg19UCSC Ensembl
Outerchr6:143869135..143872652hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg383118
hg193118
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12574725, essv12574735, essv12574739, essv12574728, essv12574724, essv12574730, essv12574723, essv12574738, essv12574731, essv12574721, essv12574726, essv12574736, essv12574737, essv12574722, essv12574729, essv12574732, essv12574720, essv12574733, essv12574727, essv12574734
SamplesNA20762, HG02339, HG01965, HG01280, NA11933, HG04059, HG01668, HG01372, NA12889, HG00188, HG03007, HG01142, HG02283, NA19773, NA20778, HG03022, NA20786, NA20763, NA12006, NA07000
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3611096
Frequency
Sample Size2504
Observed Gain0
Observed Loss20
Observed Complex0
Frequencyn/a


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