Variant Details

Variant: esv2385011

Internal ID

8056123

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:155837150..155837228	hg38	UCSC Ensembl
Outer	chr4:155836998..155837383	hg38	UCSC Ensembl
Inner	chr4:156758302..156758380	hg19	UCSC Ensembl
Outer	chr4:156758150..156758535	hg19	UCSC Ensembl
Inner	chr4:156977752..156977830	hg18	UCSC Ensembl
Outer	chr4:156977600..156977985	hg18	UCSC Ensembl

Cytoband

4q32.1

Allele length

Assembly	Allele length
hg38	386
hg19	386
hg18	386

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4816224

Samples

NA18507

Known Genes

ASIC5

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)

esv2385011

Frequency

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