Variant Details

Variant: esv2079348

Internal ID

7750459

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:31277819..31278363	hg38	UCSC Ensembl
Outer	chr15:31277631..31278550	hg38	UCSC Ensembl
Inner	chr15:31570022..31570566	hg19	UCSC Ensembl
Outer	chr15:31569834..31570753	hg19	UCSC Ensembl
Inner	chr15:29357314..29357858	hg18	UCSC Ensembl
Outer	chr15:29357126..29358045	hg18	UCSC Ensembl

Cytoband

15q13.3

Allele length

Assembly	Allele length
hg38	920
hg19	920
hg18	920

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4837079

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)

esv2079348

Frequency

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