Variant Details

Variant: esv3303480

Internal ID

15150428

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr13:60793260..60793261	hg38	UCSC Ensembl
Inner	chr13:60793243..60793278	hg38	UCSC Ensembl
Outer	chr13:60793242..60793279	hg38	UCSC Ensembl
	chr13:61367394..61367395	hg19	UCSC Ensembl
Inner	chr13:61367377..61367412	hg19	UCSC Ensembl
Outer	chr13:61367376..61367413	hg19	UCSC Ensembl
	chr13:60265395..60265396	hg18	UCSC Ensembl
Inner	chr13:60265413..60265378	hg18	UCSC Ensembl
Outer	chr13:60265377..60265414	hg18	UCSC Ensembl

Cytoband

13q21.2

Allele length

Assembly	Allele length
hg38	293
hg19	293
hg18	293

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7810691, essv7790532, essv7775659, essv7785775, essv7783350, essv7820861, essv7780296, essv7786494, essv7808978, essv7788299, essv7807555, essv7793785, essv7810054, essv7834600, essv7788648, essv7833584, essv7784260, essv7807899, essv7812438, essv7815563, essv7811750, essv7803451, essv7790431, essv7787153, essv7801755, essv7830479, essv7794674, essv7794523, essv7784870, essv7771272, essv7806814, essv7830065, essv7820187, essv7770385, essv7796557, essv7773098, essv7835274, essv7817599, essv7796176, essv7775062, essv7786382, essv7822674, essv7819433, essv7801374, essv7773546, essv7822412, essv7820493, essv7808424, essv7777574, essv7802349, essv7800634, essv7799213, essv7787719, essv7816770, essv7792886, essv7776819, essv7791070, essv7798009, essv7823783, essv7784065

Samples

NA12717, NA18592, NA12814, NA12414, NA18980, NA18561, NA12045, NA12751, NA18545, NA18959, NA18563, NA18944, NA18550, NA18558, NA18547, NA18960, NA18942, NA18916, NA11918, NA07347, NA18582, NA18571, NA12287, NA18964, NA18970, NA11994, NA12828, NA11831, NA10847, NA18605, NA12489, NA12003, NA12878, NA12872, NA18579, NA18572, NA18948, NA18566, NA18499, NA12249, NA12892, NA18555, NA18570, NA18945, NA18576, NA12043, NA18608, NA18542, NA12716, NA18961, NA18564, NA12874, NA12763, NA06986, NA18505, NA19129, NA12006, NA07000, NA18562, NA18965

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3303480

Frequency

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