Variant Details

Variant: esv2261733

Internal ID

7932844

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:227264353..227264643	hg38	UCSC Ensembl
Outer	chr1:227264156..227264828	hg38	UCSC Ensembl
Inner	chr1:227452054..227452344	hg19	UCSC Ensembl
Outer	chr1:227451857..227452529	hg19	UCSC Ensembl
Inner	chr1:225518677..225518967	hg18	UCSC Ensembl
Outer	chr1:225518480..225519152	hg18	UCSC Ensembl

Cytoband

1q42.13

Allele length

Assembly	Allele length
hg38	673
hg19	673
hg18	673

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4911506

Samples

NA18507

Known Genes

CDC42BPA

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)

esv2261733

Frequency

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