Variant Details

Variant: essv5000434

Internal ID

7586066

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr22:48814980..48815007	hg38	UCSC Ensembl
Outer	chr22:48814772..48815200	hg38	UCSC Ensembl
Inner	chr22:49210792..49210819	hg19	UCSC Ensembl
Outer	chr22:49210584..49211012	hg19	UCSC Ensembl
Inner	chr22:47596798..47596825	hg18	UCSC Ensembl
Outer	chr22:47596590..47597018	hg18	UCSC Ensembl

Cytoband

22q13.32

Allele length

Assembly	Allele length
hg38	429
hg19	429
hg18	429

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1944659

Supporting Variants

Samples

NA18507

Known Genes

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)

essv5000434

Frequency

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