Variant Details

Variant: esv2385301

Internal ID

7709726

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:8772267..8772289	hg38	UCSC Ensembl
Outer	chr16:8772042..8772491	hg38	UCSC Ensembl
Inner	chr16:8866124..8866146	hg19	UCSC Ensembl
Outer	chr16:8865899..8866348	hg19	UCSC Ensembl
Inner	chr16:8773625..8773647	hg18	UCSC Ensembl
Outer	chr16:8773400..8773849	hg18	UCSC Ensembl

Cytoband

16p13.2

Allele length

Assembly	Allele length
hg38	450
hg19	450
hg18	450

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4756043

Samples

NA18507

Known Genes

ABAT

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)

esv2385301

Frequency

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