A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306756



Internal ID15153704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119010721..119010722hg38UCSC Ensembl
Innerchr1:119010704..119010739hg38UCSC Ensembl
Outerchr1:119010703..119010740hg38UCSC Ensembl
chr1:119553344..119553345hg19UCSC Ensembl
Innerchr1:119553327..119553362hg19UCSC Ensembl
Outerchr1:119553326..119553363hg19UCSC Ensembl
chr1:119354867..119354868hg18UCSC Ensembl
Innerchr1:119354885..119354850hg18UCSC Ensembl
Outerchr1:119354849..119354886hg18UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg381040
hg191040
hg181040
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822049, essv7803697, essv7771848, essv7789047, essv7774758, essv7784964, essv7823992, essv7828809, essv7820177, essv7787948, essv7796024, essv7815314, essv7823613, essv7830987, essv7770115, essv7829418, essv7802926, essv7807971, essv7781700, essv7791027, essv7795020, essv7773383, essv7783622, essv7780672, essv7777147, essv7792752, essv7822719, essv7807437, essv7801072, essv7810067, essv7827148, essv7819742, essv7772916, essv7827038, essv7772578, essv7795687, essv7775823, essv7810938, essv7787222, essv7833614, essv7785671, essv7794420, essv7776105, essv7820884, essv7782512
SamplesNA12717, NA18947, NA11829, NA18592, NA12814, NA18561, NA11920, NA18603, NA18545, NA07357, NA18563, NA18944, NA18550, NA18558, NA18547, NA18960, NA11918, NA18582, NA18571, NA18949, NA12044, NA12828, NA18973, NA18951, NA18605, NA18956, NA18579, NA18948, NA18537, NA18566, NA11919, NA11894, NA12249, NA18555, NA12144, NA18570, NA18593, NA18576, NA18542, NA18961, NA18564, NA12873, NA18943, NA07037, NA18609
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306756
Frequency
Sample Size185
Observed Gain45
Observed Loss0
Observed Complex0
Frequencyn/a


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