Variant Details

Variant: esv3304805

Internal ID

15151753

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr12:105437111..105437112	hg38	UCSC Ensembl
Inner	chr12:105437094..105437129	hg38	UCSC Ensembl
Outer	chr12:105437093..105437130	hg38	UCSC Ensembl
	chr12:105830889..105830890	hg19	UCSC Ensembl
Inner	chr12:105830872..105830907	hg19	UCSC Ensembl
Outer	chr12:105830871..105830908	hg19	UCSC Ensembl
	chr12:104355019..104355020	hg18	UCSC Ensembl
Inner	chr12:104355037..104355002	hg18	UCSC Ensembl
Outer	chr12:104355001..104355038	hg18	UCSC Ensembl

Cytoband

12q23.3

Allele length

Assembly	Allele length
hg38	260
hg19	260
hg18	260

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7788263, essv7803010, essv7782988, essv7787141, essv7831821, essv7780525, essv7822317, essv7817547, essv7779309, essv7821084, essv7794963, essv7770772, essv7803709, essv7835180, essv7783351, essv7836416, essv7779914, essv7782686, essv7816461, essv7785284, essv7781213, essv7832941, essv7833391, essv7774798, essv7793113, essv7786597, essv7824497, essv7811337, essv7805014, essv7817165, essv7771885, essv7805495, essv7817986, essv7796735, essv7776820, essv7830410, essv7798315, essv7792648, essv7820812, essv7787905, essv7786207, essv7822783, essv7813126, essv7825251, essv7788677, essv7771041, essv7784241, essv7808520, essv7813897, essv7826242, essv7778741, essv7825541, essv7832587, essv7821825, essv7794203, essv7827468, essv7818905, essv7810227, essv7826632, essv7796073, essv7827818, essv7794382, essv7784794, essv7830573, essv7789553, essv7795611, essv7806025

Samples

NA11830, NA11829, NA18861, NA18592, NA18508, NA10851, NA18980, NA18561, NA12751, NA18545, NA18959, NA18526, NA18510, NA12750, NA12155, NA18969, NA18563, NA18550, NA18489, NA12891, NA18558, NA18916, NA19138, NA18964, NA19137, NA12044, NA12815, NA11993, NA11831, NA18579, NA18871, NA18572, NA18948, NA18907, NA18537, NA18573, NA11919, NA11894, NA12249, NA18532, NA19099, NA19257, NA18523, NA18858, NA18593, NA18576, NA12043, NA18608, NA12716, NA18909, NA18961, NA19147, NA18517, NA18564, NA12873, NA07051, NA18943, NA12874, NA07037, NA12763, NA06986, NA19093, NA19102, NA18505, NA18522, NA18965, NA18577

Known Genes

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3304805

Frequency

Sample Size	185
Observed Gain	67
Observed Loss	0
Observed Complex	0
Frequency	n/a