Variant Details

Variant: essv4797834

Internal ID

7383466

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:83088977..83089057	hg38	UCSC Ensembl
Outer	chr4:83088806..83089223	hg38	UCSC Ensembl
Inner	chr4:84010130..84010210	hg19	UCSC Ensembl
Outer	chr4:84009959..84010376	hg19	UCSC Ensembl
Inner	chr4:84229154..84229234	hg18	UCSC Ensembl
Outer	chr4:84228983..84229400	hg18	UCSC Ensembl

Cytoband

4q21.22

Allele length

Assembly	Allele length
hg38	418
hg19	418
hg18	418

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2306756

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)

essv4797834

Frequency

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