Variant Details

Variant: esv3303176

Internal ID

15150124

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr5:124812115..124812116	hg38	UCSC Ensembl
Inner	chr5:124812097..124812134	hg38	UCSC Ensembl
Outer	chr5:124812096..124812135	hg38	UCSC Ensembl
	chr5:124147808..124147809	hg19	UCSC Ensembl
Inner	chr5:124147790..124147827	hg19	UCSC Ensembl
Outer	chr5:124147789..124147828	hg19	UCSC Ensembl
	chr5:124175707..124175708	hg18	UCSC Ensembl
Inner	chr5:124175726..124175689	hg18	UCSC Ensembl
Outer	chr5:124175688..124175727	hg18	UCSC Ensembl

Cytoband

5q23.2

Allele length

Assembly	Allele length
hg38	239
hg19	239
hg18	239

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7792476, essv7823281, essv7799347, essv7826522, essv7818404, essv7816708, essv7788972, essv7798614, essv7811986, essv7775350, essv7821488, essv7791499, essv7831526, essv7827026, essv7783969, essv7811237, essv7806313, essv7819175, essv7799916, essv7784965, essv7786929, essv7784337, essv7791182, essv7812625, essv7796499, essv7831928, essv7833987, essv7810946, essv7797084, essv7805997, essv7829566, essv7786326, essv7815733, essv7823879, essv7774186, essv7770175, essv7778700, essv7788084, essv7814596, essv7795230, essv7810593, essv7775886, essv7798037, essv7822680, essv7782997, essv7794956, essv7796138, essv7773272, essv7828354, essv7807460, essv7822263, essv7820989, essv7779200, essv7803500, essv7808113, essv7807169, essv7832725, essv7817540

Samples

NA18502, NA18592, NA12814, NA12414, NA18561, NA18507, NA11920, NA12004, NA18504, NA19190, NA18870, NA18526, NA18550, NA12812, NA18558, NA18547, NA18960, NA18916, NA18582, NA19138, NA19238, NA18520, NA19239, NA18638, NA10847, NA18605, NA12003, NA18956, NA18871, NA18572, NA18948, NA18566, NA18573, NA18499, NA18856, NA18912, NA18853, NA19099, NA19257, NA18555, NA18593, NA18945, NA18576, NA18608, NA18542, NA19108, NA18952, NA18564, NA19240, NA12874, NA18501, NA18609, NA18505, NA19129, NA12006, NA18522, NA18562, NA18965

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3303176

Frequency

Sample Size	185
Observed Gain	58
Observed Loss	0
Observed Complex	0
Frequency	n/a