A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307284



Internal ID14807546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:55478830..55478831hg38UCSC Ensembl
Innerchr18:55478813..55478848hg38UCSC Ensembl
Outerchr18:55478812..55478849hg38UCSC Ensembl
chr18:53146061..53146062hg19UCSC Ensembl
Innerchr18:53146044..53146079hg19UCSC Ensembl
Outerchr18:53146043..53146080hg19UCSC Ensembl
chr18:51297059..51297060hg18UCSC Ensembl
Innerchr18:51297077..51297042hg18UCSC Ensembl
Outerchr18:51297041..51297078hg18UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38291
hg19291
hg18291
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7821464, essv7833918, essv7786228, essv7793829, essv7831037, essv7828784, essv7788904, essv7784583, essv7790868, essv7815646, essv7792422, essv7826241, essv7812574, essv7814694, essv7822643, essv7786866, essv7824768, essv7772941, essv7826830, essv7794919, essv7770306, essv7791839, essv7820263, essv7835218, essv7836020, essv7776798, essv7803455, essv7835627, essv7776241, essv7804562, essv7775693, essv7772352, essv7801547, essv7780712, essv7774737, essv7793548, essv7810249, essv7813178, essv7830003, essv7833414, essv7818101, essv7796502, essv7797590, essv7788080, essv7828031, essv7824291
SamplesNA12043, NA18951, NA18561, NA18570, NA18948, NA12828, NA18608, NA18965, NA18943, NA18912, NA18508, NA18566, NA18576, NA07357, NA12814, NA18592, NA12761, NA18638, NA11831, NA18973, NA11995, NA18916, NA18593, NA12234, NA12144, NA18537, NA06986, NA19238, NA18564, NA18942, NA18579, NA18940, NA10851, NA18552, NA18909, NA12812, NA12156, NA18577, NA11830, NA11992, NA18499, NA18571, NA12717, NA18555, NA18519, NA07000
Known GenesTCF4
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307284
Frequency
Sample Size185
Observed Gain46
Observed Loss0
Observed Complex0
Frequencyn/a


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