A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302818



Internal ID15149766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:81765079..81765646hg38UCSC Ensembl
Innerchr16:81765179..81765546hg38UCSC Ensembl
Outerchr16:81764979..81765746hg38UCSC Ensembl
chr16:81798684..81799251hg19UCSC Ensembl
Innerchr16:81798784..81799151hg19UCSC Ensembl
Outerchr16:81798584..81799351hg19UCSC Ensembl
chr16:80356185..80356752hg18UCSC Ensembl
Innerchr16:80356285..80356652hg18UCSC Ensembl
Outerchr16:80356085..80356852hg18UCSC Ensembl
Cytoband16q23.2
Allele length
AssemblyAllele length
hg38568
hg19568
hg18568
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1647e59
Supporting Variantsessv7736612, essv7732835, essv7734488, essv7736759, essv7736985, essv7733272, essv7738660, essv7734814, essv7732874, essv7733965, essv7735580, essv7733835, essv7739176, essv7735077, essv7733509, essv7732690, essv7737971, essv7736098, essv7738763, essv7737853, essv7738376, essv7735243, essv7732246, essv7733126, essv7738689, essv7737686, essv7731895, essv7738405, essv7734541, essv7733795, essv7734252, essv7738026, essv7734196, essv7732987, essv7731754, essv7736432, essv7738818, essv7738269, essv7731748, essv7735530, essv7731842, essv7736211, essv7734394, essv7735694
SamplesNA12717, NA11995, NA11829, NA18561, NA11920, NA12045, NA12751, NA18959, NA18526, NA18510, NA12750, NA12155, NA18940, NA12891, NA18558, NA18960, NA18942, NA11918, NA07347, NA19138, NA12044, NA12828, NA12003, NA18579, NA18871, NA18572, NA18948, NA18566, NA12892, NA18555, NA18593, NA18576, NA18542, NA12716, NA18961, NA07051, NA18943, NA06986, NA12749, NA19093, NA19116, NA18505, NA18965, NA18577
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302818
Frequency
Sample Size185
Observed Gain44
Observed Loss0
Observed Complex0
Frequencyn/a


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