Variant Details

Variant: esv3302761

Internal ID

15149709

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr13:51348690..51348856	hg38	UCSC Ensembl
Inner	chr13:51348773..51348773	hg38	UCSC Ensembl
Outer	chr13:51348590..51348956	hg38	UCSC Ensembl
	chr13:51922826..51922992	hg19	UCSC Ensembl
Inner	chr13:51922909..51922909	hg19	UCSC Ensembl
Outer	chr13:51922726..51923092	hg19	UCSC Ensembl
	chr13:50820827..50820993	hg18	UCSC Ensembl
Inner	chr13:50820910..50820910	hg18	UCSC Ensembl
Outer	chr13:50820727..50821093	hg18	UCSC Ensembl

Cytoband

13q14.3

Allele length

Assembly	Allele length
hg38	167
hg19	167
hg18	167

Variant Type

CNV tandem duplication

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv1000e59

Supporting Variants

essv7732376, essv7732972, essv7732918, essv7737462, essv7731733, essv7736085, essv7737977, essv7733322, essv7737030, essv7735292, essv7732244, essv7738475, essv7737741, essv7735592, essv7736990, essv7733201, essv7733703, essv7738585, essv7733296, essv7734045, essv7736475, essv7735056, essv7736260, essv7735781, essv7732534, essv7734168, essv7736025, essv7734661, essv7738118, essv7735668, essv7736541, essv7737236, essv7733903, essv7736218, essv7733845, essv7735963, essv7734310, essv7736305, essv7734343, essv7732120, essv7739147, essv7733468, essv7739071, essv7737921, essv7737804, essv7733552, essv7736811, essv7731976, essv7738209, essv7736434, essv7736740, essv7738747, essv7738666, essv7732708, essv7731905, essv7736558, essv7737091, essv7732678, essv7732637, essv7734433, essv7737295, essv7735893, essv7736346, essv7738691, essv7737910, essv7737777, essv7734467, essv7739267, essv7737633, essv7738287, essv7738711, essv7734732, essv7738129, essv7733608, essv7733015, essv7734106, essv7731785, essv7734149, essv7732508, essv7735314, essv7737168, essv7735419, essv7737998

Samples

NA18502, NA11995, NA18861, NA18592, NA18508, NA18507, NA11931, NA18603, NA19190, NA18870, NA18526, NA18510, NA07357, NA18563, NA19005, NA18944, NA18940, NA18519, NA18489, NA12891, NA18558, NA18942, NA18916, NA11918, NA12287, NA19138, NA18949, NA12156, NA19137, NA19238, NA11994, NA19239, NA18638, NA11831, NA18951, NA19210, NA12489, NA18956, NA18516, NA18579, NA18871, NA18907, NA18537, NA18566, NA18573, NA11919, NA18499, NA11894, NA18856, NA18912, NA18853, NA19099, NA19257, NA18523, NA18593, NA18945, NA18576, NA18608, NA18953, NA18542, NA18909, NA19108, NA18961, NA19147, NA18517, NA19240, NA07051, NA18943, NA07037, NA12763, NA06986, NA18501, NA19093, NA18609, NA19102, NA19129, NA07000, NA18522, NA12154, NA18562, NA12776, NA18965, NA18577

Known Genes

SERPINE3

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3302761

Frequency

Sample Size	185
Observed Gain	83
Observed Loss	0
Observed Complex	0
Frequency	n/a