Variant Details

Variant: esv2304226

Internal ID

7975337

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:94577823..94578128	hg38	UCSC Ensembl
Outer	chr4:94577628..94578339	hg38	UCSC Ensembl
Inner	chr4:95498974..95499279	hg19	UCSC Ensembl
Outer	chr4:95498779..95499490	hg19	UCSC Ensembl
Inner	chr4:95717997..95718302	hg18	UCSC Ensembl
Outer	chr4:95717802..95718513	hg18	UCSC Ensembl

Cytoband

4q22.3

Allele length

Assembly	Allele length
hg38	712
hg19	712
hg18	712

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4499118

Samples

NA18507

Known Genes

PDLIM5

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)

esv2304226

Frequency

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