Variant Details

Variant: esv3303983

Internal ID

14804245

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:224909807..224909808	hg38	UCSC Ensembl
Inner	chr2:224909783..224909832	hg38	UCSC Ensembl
Outer	chr2:224909782..224909833	hg38	UCSC Ensembl
	chr2:225774524..225774525	hg19	UCSC Ensembl
Inner	chr2:225774500..225774549	hg19	UCSC Ensembl
Outer	chr2:225774499..225774550	hg19	UCSC Ensembl
	chr2:225482768..225482769	hg18	UCSC Ensembl
Inner	chr2:225482793..225482744	hg18	UCSC Ensembl
Outer	chr2:225482743..225482794	hg18	UCSC Ensembl

Cytoband

2q36.2

Allele length

Assembly	Allele length
hg38	56
hg19	56
hg18	56

Variant Type

CNV mobile element insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7756049, essv7759485, essv7755756, essv7748613, essv7757882, essv7757690, essv7742804, essv7746047, essv7752529, essv7754182, essv7751181, essv7762100, essv7747608, essv7746550, essv7751294, essv7762506, essv7762894, essv7757205, essv7760495, essv7754398, essv7742106, essv7747972, essv7762577, essv7745250, essv7745854, essv7751847, essv7751390, essv7752386, essv7761000, essv7748273, essv7752087, essv7755452, essv7748369, essv7751920, essv7750071, essv7740372, essv7741118, essv7753814, essv7750936, essv7758127, essv7742559, essv7741218, essv7748483, essv7741919, essv7755057, essv7759742, essv7748791, essv7751609, essv7761882, essv7757538, essv7749018, essv7746270, essv7750370, essv7752286, essv7750878, essv7743290, essv7752245, essv7743478, essv7750720, essv7746911, essv7762721, essv7740890, essv7759414, essv7745022

Samples

NA12717, NA18947, NA11829, NA18592, NA12414, NA18980, NA11920, NA12045, NA12004, NA18959, NA18870, NA18526, NA12750, NA12155, NA07357, NA19005, NA18550, NA12891, NA18547, NA18960, NA18916, NA11992, NA11918, NA19138, NA12761, NA12156, NA19137, NA19239, NA12828, NA18973, NA11831, NA18951, NA19210, NA12489, NA12878, NA18956, NA18572, NA18948, NA18537, NA18573, NA12249, NA12892, NA12144, NA18523, NA18858, NA18593, NA18945, NA12043, NA18542, NA12716, NA19108, NA18952, NA18517, NA19240, NA07051, NA18943, NA07037, NA06986, NA12749, NA18609, NA18552, NA12006, NA18562, NA18965

Known Genes

DOCK10

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3303983

Frequency

Sample Size	185
Observed Gain	64
Observed Loss	0
Observed Complex	0
Frequency	n/a