Variant Details

Variant: esv3338493

Internal ID

14838763

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr18:55478829..55478841	hg38	UCSC Ensembl
Inner	chr18:55478820..55478847	hg38	UCSC Ensembl
Outer	chr18:55478808..55478862	hg38	UCSC Ensembl
	chr18:53146060..53146072	hg19	UCSC Ensembl
Inner	chr18:53146051..53146078	hg19	UCSC Ensembl
Outer	chr18:53146039..53146093	hg19	UCSC Ensembl
	chr18:51297058..51297070	hg18	UCSC Ensembl
Inner	chr18:51297076..51297049	hg18	UCSC Ensembl
Outer	chr18:51297037..51297091	hg18	UCSC Ensembl

Cytoband

18q21.2

Allele length

Assembly	Allele length
hg38	283
hg19	283
hg18	283

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8973742, essv8973730, essv8973752, essv8973731, essv8973739, essv8973759, essv8973732, essv8973737, essv8973763, essv8973744, essv8973745, essv8973751, essv8973770, essv8973729, essv8973746, essv8973755, essv8973757, essv8973733, essv8973738, essv8973748, essv8973753, essv8973766, essv8973760, essv8973767, essv8973728, essv8973741, essv8973765, essv8973771, essv8973749, essv8973750, essv8973734, essv8973772, essv8973762, essv8973764, essv8973735, essv8973756, essv8973761, essv8973740, essv8973727, essv8973743, essv8973754, essv8973768

Samples

NA12043, NA18951, NA18561, NA18570, NA18948, NA12828, NA18608, NA18965, NA18943, NA18912, NA18508, NA18566, NA18576, NA07357, NA18592, NA12761, NA18638, NA11831, NA18973, NA11995, NA18916, NA18593, NA12144, NA18537, NA06986, NA18564, NA18942, NA18579, NA18940, NA10851, NA18552, NA18909, NA12156, NA18577, NA11830, NA11992, NA18499, NA18571, NA12717, NA18555, NA18519, NA07000

Known Genes

TCF4

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3338493

Frequency

Sample Size	185
Observed Gain	42
Observed Loss	0
Observed Complex	0
Frequency	n/a