Variant Details

Variant: essv4592647

Internal ID

7178279

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:2748627..2748755	hg38	UCSC Ensembl
Outer	chr4:2748432..2748932	hg38	UCSC Ensembl
Inner	chr4:2750354..2750482	hg19	UCSC Ensembl
Outer	chr4:2750159..2750659	hg19	UCSC Ensembl
Inner	chr4:2720152..2720280	hg18	UCSC Ensembl
Outer	chr4:2719957..2720457	hg18	UCSC Ensembl

Cytoband

4p16.3

Allele length

Assembly	Allele length
hg38	501
hg19	501
hg18	501

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2189823

Supporting Variants

Samples

NA18507

Known Genes

TNIP2

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)

essv4592647

Frequency

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