Variant Details

Variant: esv3618348

Internal ID

7005230

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr8:108223711..108225920	hg38	UCSC Ensembl
Inner	chr8:108223717..108225914	hg38	UCSC Ensembl
Outer	chr8:108223705..108225926	hg38	UCSC Ensembl
	chr8:109235940..109238149	hg19	UCSC Ensembl
Inner	chr8:109235946..109238143	hg19	UCSC Ensembl
Outer	chr8:109235934..109238155	hg19	UCSC Ensembl

Cytoband

8q23.1

Allele length

Assembly	Allele length
hg38	2210
hg19	2210

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv13281015, essv13280979, essv13280934, essv13280982, essv13280965, essv13280942, essv13280962, essv13280941, essv13280991, essv13280996, essv13280990, essv13281006, essv13280980, essv13280956, essv13280970, essv13280968, essv13280954, essv13280985, essv13281013, essv13281011, essv13280972, essv13280936, essv13280945, essv13280973, essv13280978, essv13280938, essv13280953, essv13281007, essv13280960, essv13280995, essv13280958, essv13280986, essv13280949, essv13280981, essv13280999, essv13280952, essv13280948, essv13280946, essv13280993, essv13280959, essv13280947, essv13280967, essv13280998, essv13280950, essv13280935, essv13280939, essv13281003, essv13280983, essv13280937, essv13280987, essv13280933, essv13280940, essv13280966, essv13280994, essv13280984, essv13280992, essv13280976, essv13281005, essv13280975, essv13280964, essv13281018, essv13280997, essv13280974, essv13281017, essv13280957, essv13281004, essv13280955, essv13281010, essv13281002, essv13280961, essv13281016, essv13280943, essv13281000, essv13280977, essv13280951, essv13281014, essv13280989, essv13281008, essv13280971, essv13280932, essv13280969, essv13281001, essv13280963, essv13280988, essv13281012, essv13280944, essv13281009

Samples

HG02339, NA19222, NA19703, HG03548, HG03052, HG02702, HG03111, HG01389, HG03115, HG02891, NA18486, HG02870, HG02323, HG03521, HG03298, NA19355, HG03190, NA20332, HG03126, HG03139, NA19379, NA18519, NA19457, HG03224, HG02489, HG03268, HG02573, HG02471, HG02588, NA19159, HG03352, HG02571, NA19239, HG02545, NA19445, NA18908, NA19908, NA19210, HG03511, NA19175, HG02554, HG02322, NA19982, HG02450, HG02953, NA18910, HG03081, HG01323, HG02976, HG02537, HG02757, NA18907, NA19449, NA18912, HG02884, HG02309, HG03571, HG03451, HG03391, NA19625, NA18858, HG02484, HG03240, NA19149, HG02501, NA19435, HG02314, HG03433, HG03127, HG02941, HG03108, HG01342, HG02558, NA19376, NA19117, HG03039, NA19438, NA19468, HG02768, HG03470, NA19030, HG03376, NA18511, HG03118, NA19431, HG03271, HG03196

Known Genes

EIF3E

Method

Sequencing

Analysis

Platform

Multiple platforms

Comments

Reference

1000_Genomes_Consortium_Phase_3

Pubmed ID

21293372

Accession Number(s)

esv3618348

Frequency

Sample Size	2504
Observed Gain	0
Observed Loss	87
Observed Complex	0
Frequency	n/a