Variant Details

Variant: esv3337890

Internal ID

14838160

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:189094696..189094706	hg38	UCSC Ensembl
Inner	chr2:189094688..189094714	hg38	UCSC Ensembl
Outer	chr2:189094675..189094724	hg38	UCSC Ensembl
	chr2:189959422..189959432	hg19	UCSC Ensembl
Inner	chr2:189959414..189959440	hg19	UCSC Ensembl
Outer	chr2:189959401..189959450	hg19	UCSC Ensembl
	chr2:189667667..189667677	hg18	UCSC Ensembl
Inner	chr2:189667685..189667659	hg18	UCSC Ensembl
Outer	chr2:189667646..189667695	hg18	UCSC Ensembl

Cytoband

2q32.2

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

essv8910089, essv8910036, essv8910072, essv8910141, essv8910102, essv8910130, essv8910120, essv8910112, essv8910082, essv8910062, essv8910139, essv8910105, essv8910033, essv8910125, essv8910054, essv8910068, essv8910077, essv8910116, essv8910143, essv8910085, essv8910131, essv8910040, essv8910138, essv8910057, essv8910088, essv8910109, essv8910099, essv8910045, essv8910069, essv8910060, essv8910050, essv8910144, essv8910106, essv8910044, essv8910110, essv8910136, essv8910093, essv8910118, essv8910090, essv8910074, essv8910142, essv8910067, essv8910121, essv8910073, essv8910064, essv8910063, essv8910078, essv8910041, essv8910100, essv8910094, essv8910046, essv8910124, essv8910061, essv8910047, essv8910039, essv8910095, essv8910096, essv8910038, essv8910108, essv8910052, essv8910129, essv8910122, essv8910107, essv8910097, essv8910075, essv8910051, essv8910087, essv8910123, essv8910117, essv8910034, essv8910127, essv8910083, essv8910140, essv8910113, essv8910135, essv8910091, essv8910111, essv8910101, essv8910079, essv8910084, essv8910128, essv8910133, essv8910053, essv8910076, essv8910049, essv8910043, essv8910086, essv8910065, essv8910035, essv8910080, essv8910042, essv8910104, essv8910058, essv8910134, essv8910132, essv8910145, essv8910055, essv8910098, essv8910071, essv8910066, essv8910119, essv8910056

Samples

NA18502, NA12717, NA11830, NA18947, NA11995, NA11829, NA10851, NA12414, NA18561, NA11920, NA11931, NA18603, NA12045, NA12751, NA18545, NA12004, NA18959, NA19190, NA18870, NA18526, NA12750, NA12155, NA07357, NA07346, NA18563, NA19005, NA18944, NA18550, NA18519, NA18489, NA18558, NA18547, NA18916, NA11992, NA11918, NA07347, NA18582, NA18571, NA12287, NA19138, NA18964, NA18949, NA12761, NA12156, NA19137, NA12044, NA12828, NA18973, NA18638, NA11993, NA18951, NA18605, NA12489, NA12003, NA18956, NA18579, NA18572, NA18948, NA18907, NA18537, NA19114, NA11919, NA18499, NA11894, NA12249, NA18532, NA19099, NA18555, NA12144, NA18523, NA18570, NA18858, NA18593, NA18945, NA12043, NA18608, NA18542, NA12716, NA18909, NA11881, NA19108, NA18961, NA18952, NA19147, NA18564, NA07051, NA07037, NA12763, NA06986, NA12749, NA19093, NA18609, NA19102, NA19116, NA18552, NA18505, NA19129, NA12006, NA07000, NA12154, NA18562, NA12776

Known Genes

COL5A2

Method

Sequencing

Analysis

Platform

Illumina

Comments

Reference

1000_Genomes_Consortium_Pilot_Project

Pubmed ID

20981092

Accession Number(s)

esv3337890

Frequency

Sample Size	185
Observed Gain	102
Observed Loss	0
Observed Complex	0
Frequency	n/a