Variant Details

Variant: esv3307245

Internal ID

14807507

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr16:82878496..82878497	hg38	UCSC Ensembl
Inner	chr16:82878479..82878514	hg38	UCSC Ensembl
Outer	chr16:82878478..82878515	hg38	UCSC Ensembl
	chr16:82912101..82912102	hg19	UCSC Ensembl
Inner	chr16:82912084..82912119	hg19	UCSC Ensembl
Outer	chr16:82912083..82912120	hg19	UCSC Ensembl
	chr16:81469602..81469603	hg18	UCSC Ensembl
Inner	chr16:81469620..81469585	hg18	UCSC Ensembl
Outer	chr16:81469584..81469621	hg18	UCSC Ensembl

Cytoband

16q23.3

Allele length

Assembly	Allele length
hg38	96
hg19	96
hg18	96

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7807641, essv7826308, essv7806020, essv7790636, essv7794817, essv7801017, essv7814342, essv7836193, essv7781501, essv7810081, essv7831016, essv7830483, essv7779162, essv7831741, essv7806744, essv7784236, essv7830068, essv7774724, essv7829377, essv7835773, essv7825731, essv7821019, essv7834490, essv7833740, essv7812050, essv7815796, essv7808352, essv7770157, essv7785064, essv7817360, essv7816712, essv7796018, essv7819621, essv7815261, essv7819364, essv7826879, essv7826179, essv7822892, essv7771375, essv7805384, essv7812556, essv7790429, essv7796752, essv7798675, essv7827969, essv7810465, essv7811474, essv7828840, essv7792490, essv7822184, essv7798441, essv7823944, essv7789843, essv7788543, essv7780292, essv7823251, essv7773117, essv7775852, essv7814021, essv7783468, essv7832025, essv7797129, essv7824353, essv7803767, essv7787309, essv7783044, essv7778838, essv7788070, essv7810772, essv7799759

Samples

NA18870, NA18964, NA12489, NA18861, NA18520, NA18951, NA18871, NA18561, NA18523, NA18952, NA18501, NA19093, NA18526, NA18550, NA18570, NA10847, NA18603, NA18948, NA18516, NA18517, NA18573, NA18608, NA18542, NA19257, NA18965, NA18505, NA18943, NA12763, NA18508, NA19239, NA18566, NA18576, NA18563, NA12814, NA18592, NA12761, NA18638, NA18956, NA18609, NA18973, NA18593, NA18970, NA19190, NA12716, NA18537, NA19172, NA12892, NA18572, NA06986, NA18522, NA19238, NA18558, NA18564, NA18858, NA18942, NA18961, NA18562, NA18579, NA18945, NA18940, NA18582, NA19138, NA18577, NA12878, NA18499, NA18571, NA19240, NA18853, NA18555, NA07000

Known Genes

CDH13

Method

Sequencing

Analysis

Platform

Roche 454

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3307245

Frequency

Sample Size	185
Observed Gain	70
Observed Loss	0
Observed Complex	0
Frequency	n/a