Variant Details

Variant: esv3306173

Internal ID

15153121

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr7:92122218..92122219	hg38	UCSC Ensembl
Inner	chr7:92122200..92122237	hg38	UCSC Ensembl
Outer	chr7:92122199..92122238	hg38	UCSC Ensembl
	chr7:91751532..91751533	hg19	UCSC Ensembl
Inner	chr7:91751514..91751551	hg19	UCSC Ensembl
Outer	chr7:91751513..91751552	hg19	UCSC Ensembl
	chr7:91589468..91589469	hg18	UCSC Ensembl
Inner	chr7:91589487..91589450	hg18	UCSC Ensembl
Outer	chr7:91589449..91589488	hg18	UCSC Ensembl

Cytoband

7q21.2

Allele length

Assembly	Allele length
hg38	298
hg19	298
hg18	298

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7790222, essv7812036, essv7836634, essv7804564, essv7770019, essv7800132, essv7796344, essv7774068, essv7778724, essv7833697, essv7784190, essv7777198, essv7781025, essv7824817, essv7771469, essv7834406, essv7787110, essv7782657, essv7804934, essv7786335, essv7798946, essv7774579, essv7830837, essv7813244, essv7773604, essv7830225, essv7824982, essv7803187, essv7791778, essv7775833, essv7770895, essv7826832, essv7805389, essv7822118, essv7827476, essv7817536, essv7770890, essv7819378, essv7807835, essv7792432, essv7773329, essv7809157, essv7799544, essv7828647, essv7776899, essv7787591, essv7801461, essv7822977, essv7780598, essv7789839, essv7813940, essv7820059, essv7790795, essv7823388, essv7797021, essv7816538, essv7802664, essv7779786, essv7820798, essv7782047, essv7825961, essv7776080, essv7781379, essv7778435, essv7788438

Samples

NA19141, NA12717, NA18947, NA11995, NA18508, NA12814, NA10851, NA18980, NA18561, NA11931, NA12045, NA12751, NA12004, NA18870, NA18510, NA12750, NA12155, NA07357, NA07346, NA19005, NA18550, NA18519, NA12891, NA18960, NA18942, NA18916, NA11918, NA18498, NA18964, NA12044, NA12815, NA19239, NA12828, NA10847, NA18605, NA12003, NA12878, NA18579, NA18572, NA12234, NA18537, NA18566, NA11840, NA12249, NA18912, NA18853, NA18555, NA18858, NA18593, NA12716, NA11881, NA19147, NA18517, NA12873, NA12874, NA07037, NA06986, NA18501, NA12749, NA19093, NA18505, NA07000, NA18522, NA12154, NA18562

Known Genes

CYP51A1

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3306173

Frequency

Sample Size	185
Observed Gain	65
Observed Loss	0
Observed Complex	0
Frequency	n/a