Variant Details

Variant: esv3303261

Internal ID

15150209

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:74682359..74682360	hg38	UCSC Ensembl
Inner	chr1:74682342..74682377	hg38	UCSC Ensembl
Outer	chr1:74682341..74682378	hg38	UCSC Ensembl
	chr1:75148043..75148044	hg19	UCSC Ensembl
Inner	chr1:75148026..75148061	hg19	UCSC Ensembl
Outer	chr1:75148025..75148062	hg19	UCSC Ensembl
	chr1:74920631..74920632	hg18	UCSC Ensembl
Inner	chr1:74920649..74920614	hg18	UCSC Ensembl
Outer	chr1:74920613..74920650	hg18	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	295
hg19	295
hg18	295

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7785368, essv7790949, essv7822125, essv7830920, essv7834784, essv7783095, essv7816732, essv7785732, essv7824006, essv7776848, essv7810723, essv7798496, essv7792633, essv7780461, essv7781979, essv7779145, essv7819843, essv7772221, essv7815046, essv7779943, essv7830502, essv7809095, essv7788731, essv7802487, essv7811048, essv7814533, essv7787358, essv7793372, essv7803179, essv7773416, essv7811791, essv7801490, essv7828479, essv7820944, essv7815537, essv7829049, essv7794592, essv7812941, essv7784738, essv7770158, essv7772752, essv7787715, essv7835384, essv7788359, essv7771879, essv7826564, essv7771567, essv7807792, essv7774561, essv7796626, essv7813636, essv7822594, essv7824250, essv7797983, essv7778343, essv7777194, essv7803445, essv7830037, essv7824679, essv7835882

Samples

NA12717, NA11995, NA12414, NA18980, NA18561, NA18603, NA12045, NA18545, NA18526, NA12750, NA18563, NA19005, NA18944, NA18940, NA12891, NA18558, NA18960, NA18942, NA11918, NA18582, NA18571, NA12287, NA18498, NA18964, NA18949, NA12761, NA11994, NA18973, NA18638, NA18951, NA18605, NA18956, NA18579, NA18572, NA18948, NA18537, NA18566, NA18573, NA11894, NA11840, NA12249, NA12144, NA18570, NA18593, NA18945, NA18576, NA12043, NA18608, NA18953, NA18952, NA18564, NA07051, NA07037, NA06986, NA18552, NA07000, NA18562, NA12776, NA18965, NA18577

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3303261

Frequency

Sample Size	185
Observed Gain	60
Observed Loss	0
Observed Complex	0
Frequency	n/a