A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305519



Internal ID15152467
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:56139950..56139951hg38UCSC Ensembl
Innerchr14:56139932..56139969hg38UCSC Ensembl
Outerchr14:56139931..56139970hg38UCSC Ensembl
chr14:56606668..56606669hg19UCSC Ensembl
Innerchr14:56606650..56606687hg19UCSC Ensembl
Outerchr14:56606649..56606688hg19UCSC Ensembl
chr14:55676421..55676422hg18UCSC Ensembl
Innerchr14:55676440..55676403hg18UCSC Ensembl
Outerchr14:55676402..55676441hg18UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38179
hg19179
hg18179
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7806062, essv7773288, essv7824332, essv7787250, essv7815444, essv7803357, essv7793406, essv7831092, essv7822476, essv7825093, essv7784084, essv7804645, essv7795120, essv7833353, essv7836580, essv7796530, essv7804040, essv7778359, essv7799235, essv7786733, essv7792786, essv7776876, essv7814324, essv7774490, essv7774950, essv7775838, essv7798128, essv7830360, essv7826245, essv7781927, essv7801930, essv7788250, essv7830395, essv7813060, essv7834585, essv7817108, essv7807099, essv7796320, essv7828801, essv7817659, essv7784747, essv7823085, essv7815813, essv7783024, essv7800038, essv7789687, essv7794499, essv7819768, essv7781169, essv7818685, essv7816536, essv7823589, essv7785869, essv7808751
SamplesNA18502, NA11830, NA18947, NA18592, NA18508, NA10851, NA12414, NA18980, NA18561, NA18603, NA18545, NA12004, NA18959, NA19190, NA18510, NA18969, NA18563, NA19005, NA18944, NA18550, NA18960, NA18942, NA07347, NA12287, NA18949, NA18970, NA18973, NA18638, NA18951, NA12003, NA18572, NA12234, NA18537, NA18573, NA18532, NA18853, NA19257, NA18555, NA19225, NA18523, NA18570, NA18576, NA18608, NA11881, NA19147, NA18517, NA18564, NA12874, NA19093, NA18552, NA12006, NA18562, NA18965, NA18577
Known GenesPELI2
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305519
Frequency
Sample Size185
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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