Variant Details

Variant: esv2761260

Internal ID

10377567

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:104598641..104619288	hg38	UCSC Ensembl
Inner	chr9:107360922..107381569	hg19	UCSC Ensembl
Inner	chr9:106400743..106421390	hg18	UCSC Ensembl

Cytoband

9q31.1

Allele length

Assembly	Allele length
hg38	20648
hg19	20648
hg18	20648

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7018003, essv7018010, essv7018028, essv7017965, essv7017981, essv7018030, essv7017996, essv7017987, essv7017999, essv7018014, essv7018021, essv7017991, essv7017995, essv7017974, essv7018013, essv7018012, essv7018023, essv7017985, essv7018019, essv7018029, essv7018007, essv7017986, essv7018016, essv7017994, essv7017976, essv7018018, essv7018005, essv7017971, essv7018002, essv7018008, essv7018020, essv7017972, essv7017975, essv7017984, essv7018006, essv7018026, essv7018017, essv7017992, essv7017982, essv7017988, essv7018009, essv7018015, essv7017993, essv7017964, essv7018027, essv7018004, essv7017970, essv7017969, essv7017990, essv7017973, essv7018024, essv7017980, essv7018025, essv7018001, essv7017968, essv7017983, essv7017977, essv7017963, essv7017961, essv7017998, essv7017962, essv7017997, essv7017979

Samples

RW_0585, RW_0087, RW_0644, RW_0348, RW_0239, RW_0256, RW_0099, RW_0538, RW_0566, RW_0178, RW_0090, RW_0141, RW_0180, RW_0658, RW_0188, RW_0629, RW_0202, RW_0217, RW_0511, RW_0254, RW_0525, RW_0062, RW_0502, RW_0548, RW_0233, RW_0616, RW_0111, RW_0541, RW_0114, RW_0500, RW_0197, RW_0648, RW_0221, RW_0346, RW_0214, RW_0593, RW_0054, RW_0653, RW_0327, RW_0252, RW_0633, RW_0333, RW_0008, RW_0249, RW_0320, RW_0667, RW_0032, RW_0564, RW_0341, RW_0278, RW_0669, RW_0235, RW_0662, RW_0584, RW_0579, RW_0149, RW_0183, RW_0170, RW_0277, RW_0014, RW_0646, RW_0223

Known Genes

OR13C2, OR13C5, OR13C9

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2761260

Frequency

Sample Size	1109
Observed Gain	10
Observed Loss	53
Observed Complex	0
Frequency	n/a