A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303190



Internal ID15150138
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:109715288..109715289hg38UCSC Ensembl
Innerchr5:109715270..109715307hg38UCSC Ensembl
Outerchr5:109715269..109715308hg38UCSC Ensembl
chr5:109050989..109050990hg19UCSC Ensembl
Innerchr5:109050971..109051008hg19UCSC Ensembl
Outerchr5:109050970..109051009hg19UCSC Ensembl
chr5:109078888..109078889hg18UCSC Ensembl
Innerchr5:109078907..109078870hg18UCSC Ensembl
Outerchr5:109078869..109078908hg18UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38309
hg19309
hg18309
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7810354, essv7830585, essv7782969, essv7796263, essv7773909, essv7775624, essv7771341, essv7776873, essv7831799, essv7778891, essv7826613, essv7778260, essv7782003, essv7791774, essv7814667, essv7774825, essv7798317, essv7808059, essv7823524, essv7829155, essv7789157, essv7834564, essv7796753, essv7824088, essv7822691, essv7807725, essv7783371, essv7803732, essv7785082, essv7819881, essv7834143, essv7820354, essv7815658, essv7794538, essv7816717, essv7824036, essv7777318, essv7773139, essv7793297, essv7821202, essv7831084, essv7773364, essv7830045, essv7793871, essv7770386, essv7794693, essv7801068, essv7785707, essv7827155, essv7783929, essv7772004, essv7786534, essv7822233, essv7833799, essv7787304, essv7813871, essv7788667
SamplesNA12717, NA18947, NA18592, NA12814, NA18980, NA18561, NA11920, NA11931, NA18603, NA12751, NA18545, NA18959, NA18526, NA12750, NA19005, NA18944, NA18550, NA18519, NA18558, NA18960, NA18942, NA11918, NA18582, NA18571, NA19138, NA18964, NA18949, NA18970, NA12044, NA18638, NA11831, NA18951, NA18605, NA18572, NA18948, NA18537, NA18566, NA18573, NA11894, NA18555, NA18570, NA18593, NA18576, NA18542, NA12716, NA18961, NA18952, NA18564, NA18943, NA06986, NA18609, NA18552, NA12006, NA12154, NA18562, NA18965, NA18577
Known GenesMAN2A1, MIR548C, MIR548Z
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303190
Frequency
Sample Size185
Observed Gain57
Observed Loss0
Observed Complex0
Frequencyn/a


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