A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302987



Internal ID15149935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:69961553..69961958hg38UCSC Ensembl
Innerchr17:69961653..69961858hg38UCSC Ensembl
Outerchr17:69961453..69962058hg38UCSC Ensembl
chr17:67957694..67958099hg19UCSC Ensembl
Innerchr17:67957794..67957999hg19UCSC Ensembl
Outerchr17:67957594..67958199hg19UCSC Ensembl
chr17:65469289..65469694hg18UCSC Ensembl
Innerchr17:65469389..65469594hg18UCSC Ensembl
Outerchr17:65469189..65469794hg18UCSC Ensembl
Cytoband17q24.3
Allele length
AssemblyAllele length
hg38406
hg19406
hg18406
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1801e59
Supporting Variantsessv7737201, essv7733465, essv7732685, essv7736372, essv7739048, essv7737752, essv7736214, essv7735240, essv7734475, essv7734637, essv7738673, essv7737097, essv7732521, essv7738540, essv7732720, essv7733797, essv7735213, essv7738336, essv7736179, essv7736706, essv7736449, essv7734746, essv7734963, essv7739264, essv7738443, essv7736496, essv7734578, essv7736247, essv7732646, essv7735646, essv7732400, essv7731825, essv7737447, essv7732491, essv7733755, essv7735134, essv7735544, essv7736399, essv7738726, essv7731699, essv7732425, essv7733273, essv7733620, essv7737824, essv7734436, essv7737985, essv7735679, essv7734510, essv7734002, essv7736984, essv7736320, essv7739104, essv7737549, essv7735110, essv7735284, essv7736081, essv7737875, essv7738671, essv7732786, essv7735377
SamplesNA18502, NA18947, NA11995, NA18592, NA18508, NA11920, NA11931, NA12751, NA18504, NA18510, NA18550, NA18519, NA18489, NA18547, NA18916, NA11992, NA11918, NA18571, NA12761, NA19137, NA19238, NA12044, NA18520, NA19239, NA18973, NA18638, NA10847, NA18951, NA12489, NA12878, NA18516, NA18579, NA18871, NA18907, NA18573, NA18499, NA11894, NA18912, NA12892, NA19099, NA19257, NA18523, NA18576, NA12716, NA11881, NA19108, NA18961, NA18517, NA19240, NA07051, NA18943, NA06986, NA12749, NA19093, NA19102, NA18552, NA18505, NA19129, NA12006, NA18562
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302987
Frequency
Sample Size185
Observed Gain60
Observed Loss0
Observed Complex0
Frequencyn/a


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