Variant Details

Variant: esv3321595

Internal ID

14821876

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:33633219..33633233	hg38	UCSC Ensembl
Inner	chr5:33633210..33633242	hg38	UCSC Ensembl
Outer	chr5:33633194..33633256	hg38	UCSC Ensembl
	chr5:33633324..33633338	hg19	UCSC Ensembl
Inner	chr5:33633315..33633347	hg19	UCSC Ensembl
Outer	chr5:33633299..33633361	hg19	UCSC Ensembl
	chr5:33669081..33669095	hg18	UCSC Ensembl
Inner	chr5:33669104..33669072	hg18	UCSC Ensembl
Outer	chr5:33669056..33669118	hg18	UCSC Ensembl

Cytoband

5p13.3

Allele length

Assembly	Allele length
hg38	794
hg19	794
hg18	794

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8923899, essv8923867, essv8923861, essv8923900, essv8923849, essv8923877, essv8923829, essv8923953, essv8923838, essv8923943, essv8923864, essv8923946, essv8923919, essv8923859, essv8923883, essv8923927, essv8923911, essv8923855, essv8923939, essv8923885, essv8923950, essv8923917, essv8923888, essv8923875, essv8923905, essv8923922, essv8923830, essv8923843, essv8923863, essv8923893, essv8923941, essv8923852, essv8923844, essv8923932, essv8923929, essv8923833, essv8923872, essv8923928, essv8923856, essv8923930, essv8923906, essv8923923, essv8923835, essv8923881, essv8923854, essv8923845, essv8923873, essv8923944, essv8923889, essv8923935, essv8923902, essv8923862, essv8923850, essv8923952, essv8923876, essv8923926, essv8923868, essv8923886, essv8923909, essv8923882, essv8923910, essv8923933, essv8923904, essv8923887, essv8923853, essv8923915, essv8923945, essv8923894, essv8923884, essv8923837, essv8923865, essv8923920, essv8923832, essv8923907, essv8923901, essv8923921, essv8923895, essv8923918, essv8923898, essv8923842, essv8923912, essv8923834, essv8923857, essv8923916, essv8923924, essv8923951, essv8923879, essv8923839, essv8923908, essv8923934, essv8923870, essv8923840, essv8923848, essv8923874, essv8923860, essv8923942, essv8923896, essv8923841, essv8923851, essv8923866, essv8923937, essv8923897, essv8923831, essv8923913, essv8923878, essv8923871, essv8923890, essv8923940, essv8923846, essv8923948, essv8923938, essv8923949, essv8923931

Samples

NA18502, NA12717, NA18947, NA11995, NA11829, NA18592, NA18508, NA10851, NA12414, NA18980, NA18561, NA11920, NA11931, NA18603, NA12751, NA18545, NA12004, NA18526, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18940, NA18550, NA18489, NA18558, NA18547, NA18960, NA18942, NA18916, NA11992, NA11918, NA07347, NA18582, NA18571, NA12287, NA19138, NA18949, NA12761, NA12156, NA19137, NA12044, NA11994, NA19172, NA12828, NA18973, NA18638, NA11993, NA11831, NA10847, NA18951, NA18605, NA12489, NA12003, NA18956, NA18579, NA18871, NA18572, NA18948, NA18907, NA18537, NA18566, NA18573, NA19114, NA18499, NA11894, NA18856, NA12249, NA18532, NA19099, NA19257, NA18555, NA19225, NA12144, NA18523, NA18570, NA18858, NA18593, NA18576, NA12043, NA18608, NA18953, NA18542, NA12716, NA18909, NA11881, NA19108, NA18961, NA18952, NA19147, NA18517, NA07051, NA07037, NA12763, NA06986, NA18501, NA12749, NA19093, NA19102, NA18552, NA18505, NA19129, NA12006, NA18511, NA07000, NA18522, NA12154, NA18562, NA12776, NA18965, NA18577

Known Genes

ADAMTS12

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3321595

Frequency

Sample Size	185
Observed Gain	113
Observed Loss	0
Observed Complex	0
Frequency	n/a