Variant Details

Variant: esv3307285

Internal ID

14807547

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr10:71433773..71433774	hg38	UCSC Ensembl
Inner	chr10:71433756..71433791	hg38	UCSC Ensembl
Outer	chr10:71433755..71433792	hg38	UCSC Ensembl
	chr10:73193530..73193531	hg19	UCSC Ensembl
Inner	chr10:73193513..73193548	hg19	UCSC Ensembl
Outer	chr10:73193512..73193549	hg19	UCSC Ensembl
	chr10:72863536..72863537	hg18	UCSC Ensembl
Inner	chr10:72863554..72863519	hg18	UCSC Ensembl
Outer	chr10:72863518..72863555	hg18	UCSC Ensembl

Cytoband

10q22.1

Allele length

Assembly	Allele length
hg38	294
hg19	294
hg18	294

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7805591, essv7774616, essv7800181, essv7830199, essv7781597, essv7790501, essv7813774, essv7830938, essv7780960, essv7824441, essv7779184, essv7795698, essv7782614, essv7814392, essv7801799, essv7773635, essv7830876, essv7801384, essv7816854, essv7793907, essv7778158, essv7774098, essv7787004, essv7828745, essv7791297, essv7834953, essv7789906, essv7821313, essv7783913, essv7798993, essv7835391, essv7770640, essv7800520, essv7784573, essv7827739, essv7776500, essv7791327, essv7807943, essv7776397, essv7807285, essv7822708, essv7826859, essv7811652, essv7770062, essv7782967, essv7794383, essv7781660, essv7777521, essv7789264, essv7793742, essv7788452, essv7798363, essv7771865, essv7796708, essv7796395, essv7803456, essv7787818, essv7785529, essv7825622, essv7806825, essv7836254, essv7803068, essv7786775, essv7810131, essv7780679, essv7828822, essv7813325

Samples

NA18502, NA12717, NA18861, NA10851, NA18561, NA11920, NA11931, NA18545, NA12004, NA18959, NA18526, NA18510, NA12750, NA07357, NA19005, NA18550, NA18558, NA18547, NA18942, NA11918, NA07347, NA18964, NA18949, NA12761, NA12156, NA11994, NA12815, NA18973, NA18638, NA11993, NA11831, NA18951, NA18605, NA12489, NA12003, NA12878, NA18579, NA18948, NA18537, NA18566, NA18573, NA11919, NA11894, NA11840, NA12249, NA12892, NA18858, NA18593, NA18576, NA12043, NA11881, NA19108, NA18952, NA18564, NA12873, NA07051, NA18943, NA07037, NA06986, NA12749, NA19093, NA18552, NA12006, NA07000, NA18562, NA18965, NA18577

Known Genes

CDH23

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3307285

Frequency

Sample Size	185
Observed Gain	67
Observed Loss	0
Observed Complex	0
Frequency	n/a