A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302776



Internal ID15149724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:173399537..173399687hg38UCSC Ensembl
Innerchr4:173399612..173399612hg38UCSC Ensembl
Outerchr4:173399437..173399787hg38UCSC Ensembl
chr4:174320688..174320838hg19UCSC Ensembl
Innerchr4:174320763..174320763hg19UCSC Ensembl
Outerchr4:174320588..174320938hg19UCSC Ensembl
chr4:174557263..174557413hg18UCSC Ensembl
Innerchr4:174557338..174557338hg18UCSC Ensembl
Outerchr4:174557163..174557513hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38151
hg19151
hg18151
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3120e59
Supporting Variantsessv7738632, essv7738557, essv7732306, essv7735842, essv7739227, essv7732597, essv7732086, essv7739069, essv7732459, essv7734687, essv7736275, essv7738136, essv7738978, essv7735438, essv7735662, essv7731740, essv7738742, essv7737156, essv7736698, essv7737737, essv7738221, essv7733826, essv7732247, essv7737337, essv7736906, essv7732442, essv7739149, essv7734525, essv7734983, essv7732144, essv7737983, essv7733178, essv7735574, essv7737007, essv7738823, essv7734211, essv7735931, essv7736748, essv7733454, essv7737556, essv7734302, essv7736783, essv7738355, essv7732846, essv7734249, essv7733223, essv7732792
SamplesNA12717, NA11995, NA18508, NA10851, NA12414, NA11931, NA18603, NA18486, NA18545, NA12004, NA12750, NA07357, NA18940, NA12891, NA18558, NA18942, NA18582, NA18571, NA18949, NA12761, NA19238, NA19239, NA11993, NA11831, NA12878, NA18956, NA18948, NA18907, NA19114, NA11894, NA18912, NA12892, NA18853, NA19099, NA12144, NA18858, NA12043, NA18608, NA11881, NA19108, NA19240, NA18943, NA07037, NA12749, NA18609, NA19129, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302776
Frequency
Sample Size185
Observed Gain47
Observed Loss0
Observed Complex0
Frequencyn/a


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