Variant Details

Variant: essv4992871

Internal ID

7231817

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:56914..57608	hg38	UCSC Ensembl
Outer	chr4:56745..57775	hg38	UCSC Ensembl
Inner	chr4:56808..57501	hg19	UCSC Ensembl
Outer	chr4:56639..57668	hg19	UCSC Ensembl
Inner	chr4:46808..47501	hg18	UCSC Ensembl
Outer	chr4:46639..47668	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	1031
hg19	1030
hg18	1030

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2420576

Supporting Variants

Samples

NA18507

Known Genes

ZNF595, ZNF718

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)

essv4992871

Frequency

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