Variant Details

Variant: essv4796576

Internal ID

7382208

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:45967437..45967506	hg38	UCSC Ensembl
Outer	chr22:45967274..45967671	hg38	UCSC Ensembl
Inner	chr22:46363317..46363386	hg19	UCSC Ensembl
Outer	chr22:46363154..46363551	hg19	UCSC Ensembl
Inner	chr22:44741981..44742050	hg18	UCSC Ensembl
Outer	chr22:44741818..44742215	hg18	UCSC Ensembl

Cytoband

22q13.31

Allele length

Assembly	Allele length
hg38	398
hg19	398
hg18	398

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2008251

Supporting Variants

Samples

NA18507

Known Genes

WNT7B

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

essv4796576

Frequency

Sample Size	1
Observed Gain	0
Observed Loss	1
Observed Complex	0
Frequency	n/a