Variant Details

Variant: esv3302847

Internal ID

15149795

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr14:39033520..39033653	hg38	UCSC Ensembl
Inner	chr14:39033586..39033586	hg38	UCSC Ensembl
Outer	chr14:39033420..39033753	hg38	UCSC Ensembl
	chr14:39502724..39502857	hg19	UCSC Ensembl
Inner	chr14:39502790..39502790	hg19	UCSC Ensembl
Outer	chr14:39502624..39502957	hg19	UCSC Ensembl
	chr14:38572475..38572608	hg18	UCSC Ensembl
Inner	chr14:38572541..38572541	hg18	UCSC Ensembl
Outer	chr14:38572375..38572708	hg18	UCSC Ensembl

Cytoband

14q21.1

Allele length

Assembly	Allele length
hg38	134
hg19	134
hg18	134

Variant Type

CNV tandem duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1236e59

Supporting Variants

essv7737763, essv7737912, essv7736663, essv7736461, essv7738346, essv7735445, essv7732395, essv7733953, essv7737110, essv7738546, essv7738598, essv7734734, essv7732332, essv7733147, essv7738145, essv7734840, essv7734423, essv7736922, essv7738780, essv7737327, essv7735631, essv7737652, essv7738185, essv7733822, essv7733417, essv7732062, essv7732842, essv7733708, essv7737471, essv7735069, essv7734506, essv7731885, essv7736581, essv7737774, essv7735811, essv7739059, essv7737995, essv7735570, essv7734201, essv7739200, essv7733221, essv7732531, essv7732775, essv7737457, essv7733651, essv7733345, essv7737262, essv7735734, essv7735972, essv7732934, essv7736110, essv7737056, essv7737206, essv7736734, essv7733736, essv7732007, essv7738951, essv7738873, essv7732074, essv7733007, essv7735269, essv7738090, essv7732302, essv7735533, essv7734128, essv7731752, essv7734071, essv7732811, essv7734908, essv7734646, essv7732204, essv7735299, essv7735937, essv7732651, essv7735309

Samples

NA18502, NA11995, NA18861, NA18508, NA10851, NA18507, NA18545, NA12004, NA18870, NA18526, NA07357, NA18563, NA19005, NA18944, NA18519, NA18489, NA12891, NA18558, NA18916, NA18582, NA12287, NA19138, NA18498, NA18949, NA12156, NA19137, NA19238, NA12044, NA11994, NA19239, NA12828, NA18638, NA11993, NA18951, NA12489, NA12878, NA18956, NA18948, NA18907, NA18566, NA19114, NA18499, NA12892, NA18532, NA19099, NA19225, NA12144, NA18523, NA18570, NA18858, NA18945, NA12043, NA18608, NA18542, NA18909, NA11881, NA19108, NA18952, NA19147, NA18517, NA19240, NA07051, NA18943, NA07037, NA18501, NA12749, NA19093, NA18505, NA19129, NA12006, NA18511, NA18522, NA12776, NA18965, NA18577

Known Genes

SEC23A

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3302847

Frequency

Sample Size	185
Observed Gain	75
Observed Loss	0
Observed Complex	0
Frequency	n/a