Variant Details

Variant: esv2760711

Internal ID

10028073

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:38955461..39003307	hg38	UCSC Ensembl
Inner	chr22:39351466..39399312	hg19	UCSC Ensembl
Inner	chr22:37681412..37729258	hg18	UCSC Ensembl

Cytoband

22q13.1

Allele length

Assembly	Allele length
hg38	47847
hg19	47847
hg18	47847

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7026971, essv7026952, essv7026943, essv7026951, essv7026981, essv7026958, essv7026979, essv7026977, essv7026968, essv7026962, essv7026972, essv7026983, essv7026969, essv7026942, essv7026965, essv7026941, essv7026956, essv7026984, essv7026973, essv7026980, essv7026982, essv7026946, essv7026976, essv7026975, essv7026960, essv7026974, essv7026950, essv7026963, essv7026954, essv7026945, essv7026957, essv7026961, essv7026964, essv7026947, essv7026970, essv7026959, essv7026953, essv7026949, essv7026948

Samples

RW_0620, RW_0169, RW_0123, RW_0237, RW_0553, RW_0345, RW_0262, RW_0658, RW_0025, RW_0179, RW_0216, RW_0115, RW_0246, RW_0357, RW_0616, RW_0230, RW_0023, RW_0065, RW_0286, RW_0002, RW_0204, RW_0177, RW_0091, RW_0257, RW_0276, RW_0078, RW_0042, RW_0529, RW_0200, RW_0232, RW_0275, RW_0132, RW_0662, RW_0014, RW_0033, RW_0223, RW_0234, RW_0018, RW_0207

Known Genes

APOBEC3A, APOBEC3A_B, APOBEC3B, APOBEC3B-AS1

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)

esv2760711

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	39
Observed Complex	0
Frequency	n/a