A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3304974



Internal ID15151922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:878786..878787hg38UCSC Ensembl
Innerchr12:878759..878814hg38UCSC Ensembl
Outerchr12:878758..878815hg38UCSC Ensembl
chr12:987952..987953hg19UCSC Ensembl
Innerchr12:987925..987980hg19UCSC Ensembl
Outerchr12:987924..987981hg19UCSC Ensembl
chr12:858213..858214hg18UCSC Ensembl
Innerchr12:858241..858186hg18UCSC Ensembl
Outerchr12:858185..858242hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7741991, essv7741907, essv7753127, essv7750949, essv7740334, essv7756634, essv7759539, essv7751192, essv7750792, essv7757891, essv7753178, essv7747366, essv7757219, essv7752130, essv7746315, essv7742849, essv7745273, essv7743755, essv7753698, essv7747904, essv7745827, essv7762580, essv7757672, essv7755285, essv7760588, essv7761892, essv7748690, essv7751974, essv7744192, essv7762739, essv7747985, essv7745100, essv7755335
SamplesNA12717, NA18947, NA18592, NA10851, NA18603, NA18545, NA18959, NA18526, NA18510, NA12750, NA12155, NA18563, NA18944, NA18550, NA18547, NA18942, NA11992, NA18638, NA11993, NA18951, NA18605, NA18956, NA18579, NA18572, NA18948, NA18566, NA19225, NA18945, NA12716, NA19108, NA18609, NA18562, NA18965
Known GenesWNK1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3304974
Frequency
Sample Size185
Observed Gain33
Observed Loss0
Observed Complex0
Frequencyn/a


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