Variant Details

Variant: esv3423684

Internal ID

15270641

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr1:221795812..221795825	hg38	UCSC Ensembl
Inner	chr1:221795802..221795833	hg38	UCSC Ensembl
Outer	chr1:221795789..221795846	hg38	UCSC Ensembl
	chr1:221969154..221969167	hg19	UCSC Ensembl
Inner	chr1:221969144..221969175	hg19	UCSC Ensembl
Outer	chr1:221969131..221969188	hg19	UCSC Ensembl
	chr1:220035777..220035790	hg18	UCSC Ensembl
Inner	chr1:220035798..220035767	hg18	UCSC Ensembl
Outer	chr1:220035754..220035811	hg18	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	289
hg19	289
hg18	289

Variant Type

CNV insertion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv8903096, essv8903085, essv8903059, essv8903063, essv8903076, essv8903079, essv8903083, essv8903050, essv8903048, essv8903073, essv8903106, essv8903075, essv8903045, essv8903099, essv8903072, essv8903103, essv8903111, essv8903070, essv8903062, essv8903086, essv8903088, essv8903049, essv8903082, essv8903056, essv8903081, essv8903057, essv8903055, essv8903092, essv8903093, essv8903051, essv8903095, essv8903065, essv8903077, essv8903090, essv8903046, essv8903064, essv8903067, essv8903100, essv8903066, essv8903107, essv8903089, essv8903052, essv8903098, essv8903097, essv8903087, essv8903104, essv8903078, essv8903101, essv8903084, essv8903071, essv8903061, essv8903068, essv8903054, essv8903053, essv8903110, essv8903105, essv8903060, essv8903094, essv8903108, essv8903109, essv8903074

Samples

NA18502, NA12717, NA11830, NA11995, NA11829, NA18592, NA18508, NA12414, NA18561, NA11920, NA18603, NA18486, NA18959, NA19190, NA18870, NA18526, NA07357, NA18944, NA18940, NA18558, NA18916, NA11918, NA18582, NA11994, NA12828, NA18638, NA11993, NA10847, NA18605, NA19210, NA12003, NA18956, NA18516, NA18579, NA18572, NA18537, NA18566, NA18573, NA11919, NA18499, NA18856, NA12249, NA12144, NA18523, NA18593, NA18945, NA18576, NA18608, NA18953, NA12716, NA18961, NA18952, NA19147, NA18564, NA07037, NA18501, NA18609, NA19102, NA19116, NA12154, NA18965

Known Genes

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3423684

Frequency

Sample Size	185
Observed Gain	61
Observed Loss	0
Observed Complex	0
Frequency	n/a