Variant Details

Variant: essv4733712

Internal ID

7319344

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:14308671..14308738	hg38	UCSC Ensembl
Outer	chr5:14308473..14308934	hg38	UCSC Ensembl
Inner	chr5:14308780..14308847	hg19	UCSC Ensembl
Outer	chr5:14308582..14309043	hg19	UCSC Ensembl
Inner	chr5:14361780..14361847	hg18	UCSC Ensembl
Outer	chr5:14361582..14362043	hg18	UCSC Ensembl

Cytoband

5p15.2

Allele length

Assembly	Allele length
hg38	462
hg19	462
hg18	462

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2138858

Supporting Variants

Samples

NA18507

Known Genes

TRIO

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)

essv4733712

Frequency

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