A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307285



Internal ID14807547
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:71433773..71433774hg38UCSC Ensembl
Innerchr10:71433756..71433791hg38UCSC Ensembl
Outerchr10:71433755..71433792hg38UCSC Ensembl
chr10:73193530..73193531hg19UCSC Ensembl
Innerchr10:73193513..73193548hg19UCSC Ensembl
Outerchr10:73193512..73193549hg19UCSC Ensembl
chr10:72863536..72863537hg18UCSC Ensembl
Innerchr10:72863554..72863519hg18UCSC Ensembl
Outerchr10:72863518..72863555hg18UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7822708, essv7782967, essv7771865, essv7774616, essv7770062, essv7796395, essv7814392, essv7826859, essv7795698, essv7789264, essv7785529, essv7798363, essv7835391, essv7791297, essv7836254, essv7780679, essv7828822, essv7776397, essv7782614, essv7828745, essv7794383, essv7803068, essv7807943, essv7827739, essv7807285, essv7774098, essv7793742, essv7787004, essv7783913, essv7830938, essv7834953, essv7806825, essv7821313, essv7781660, essv7813325, essv7813774, essv7786775, essv7825622, essv7830876, essv7791327, essv7778158, essv7805591, essv7788452, essv7780960, essv7781597, essv7801384, essv7796708, essv7801799, essv7800520, essv7811652, essv7816854, essv7824441, essv7773635, essv7776500, essv7784573, essv7770640, essv7779184, essv7798993, essv7790501, essv7789906, essv7803456, essv7793907, essv7830199, essv7800181, essv7810131, essv7787818, essv7777521
SamplesNA11881, NA18964, NA12043, NA12489, NA12249, NA18861, NA18605, NA07347, NA12750, NA07037, NA18951, NA18561, NA18952, NA11920, NA19093, NA18526, NA11918, NA18550, NA12815, NA18545, NA18948, NA11931, NA18573, NA07051, NA19108, NA18965, NA18943, NA18949, NA11919, NA11840, NA12004, NA18566, NA11994, NA18576, NA07357, NA12873, NA12761, NA18638, NA18959, NA18547, NA11831, NA11894, NA18973, NA18593, NA12006, NA18537, NA12892, NA06986, NA19005, NA18510, NA18502, NA18558, NA18564, NA18858, NA18942, NA18562, NA18579, NA10851, NA18552, NA12749, NA12156, NA18577, NA12878, NA12003, NA11993, NA12717, NA07000
Known GenesCDH23
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307285
Frequency
Sample Size185
Observed Gain67
Observed Loss0
Observed Complex0
Frequencyn/a


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