Variant Details

Variant: esv3307335

Internal ID

14807597

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:33633225..33633226	hg38	UCSC Ensembl
Inner	chr5:33633207..33633244	hg38	UCSC Ensembl
Outer	chr5:33633206..33633245	hg38	UCSC Ensembl
	chr5:33633330..33633331	hg19	UCSC Ensembl
Inner	chr5:33633312..33633349	hg19	UCSC Ensembl
Outer	chr5:33633311..33633350	hg19	UCSC Ensembl
	chr5:33669087..33669088	hg18	UCSC Ensembl
Inner	chr5:33669106..33669069	hg18	UCSC Ensembl
Outer	chr5:33669068..33669107	hg18	UCSC Ensembl

Cytoband

5p13.3

Allele length

Assembly	Allele length
hg38	815
hg19	815
hg18	815

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7813430, essv7775649, essv7794889, essv7779986, essv7778846, essv7803903, essv7806907, essv7826831, essv7816460, essv7773776, essv7798499, essv7773534, essv7830185, essv7779749, essv7811339, essv7789366, essv7797730, essv7793013, essv7827177, essv7780780, essv7802031, essv7832545, essv7787086, essv7790276, essv7824829, essv7819758, essv7835922, essv7812678, essv7792554, essv7771337, essv7783160, essv7789810, essv7796589, essv7772021, essv7772532, essv7793551, essv7810997, essv7805549, essv7788255, essv7805937, essv7822543, essv7791686, essv7817230, essv7786188, essv7798078, essv7785298, essv7823684, essv7783532, essv7835147, essv7772919, essv7812065, essv7815422, essv7778084, essv7818854, essv7822868, essv7826263, essv7823583, essv7777154, essv7793916, essv7781664, essv7783831, essv7801429, essv7827729, essv7770355, essv7787927, essv7820097, essv7820894, essv7791241, essv7831844, essv7800017, essv7820444, essv7808406, essv7794469, essv7798817, essv7790846, essv7779189, essv7819008, essv7780562, essv7795504, essv7834154, essv7796174, essv7803088, essv7821904, essv7776802, essv7776234, essv7799397, essv7814588, essv7832748, essv7816583, essv7781512, essv7784634, essv7800631, essv7809009, essv7809128, essv7778324, essv7824495, essv7812862, essv7817904, essv7831250, essv7807800, essv7802295, essv7774154, essv7804971, essv7825139, essv7788671, essv7811704, essv7774888, essv7813996, essv7770740, essv7775042, essv7828130, essv7804286, essv7806810, essv7810034, essv7784128, essv7807512, essv7835706, essv7776946, essv7829144, essv7815131

Samples

NA19137, NA11881, NA12154, NA12043, NA12489, NA12249, NA18605, NA07347, NA12750, NA07037, NA18951, NA18871, NA18561, NA18523, NA18952, NA19114, NA11920, NA18501, NA19093, NA18526, NA11918, NA18550, NA18570, NA18511, NA12815, NA10847, NA18545, NA18603, NA18948, NA11931, NA18953, NA12828, NA18517, NA18947, NA18573, NA18608, NA18542, NA18489, NA12776, NA07051, NA19257, NA19108, NA18965, NA18505, NA12044, NA12287, NA19147, NA18949, NA12414, NA12763, NA18508, NA12004, NA18566, NA11994, NA12155, NA18576, NA18960, NA18563, NA07357, NA18592, NA18856, NA12761, NA18638, NA18956, NA18547, NA11831, NA11894, NA18973, NA11995, NA18916, NA18593, NA12144, NA12751, NA12006, NA07346, NA12716, NA18537, NA19129, NA19172, NA12892, NA18572, NA19102, NA06986, NA18522, NA19238, NA19005, NA18502, NA18558, NA12872, NA18858, NA18942, NA18961, NA18562, NA18579, NA18940, NA12891, NA10851, NA18582, NA18552, NA19138, NA18907, NA18909, NA12749, NA12156, NA18577, NA19099, NA12878, NA11992, NA12003, NA19225, NA11993, NA18499, NA18571, NA12045, NA11829, NA12717, NA18532, NA18555, NA07000, NA18980

Known Genes

ADAMTS12

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3307335

Frequency

Sample Size	185
Observed Gain	120
Observed Loss	0
Observed Complex	0
Frequency	n/a