Variant Details

Variant: esv2052288

Internal ID

7376713

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:31316010..31316273	hg38	UCSC Ensembl
Outer	chr16:31315895..31316387	hg38	UCSC Ensembl
Inner	chr16:31327331..31327594	hg19	UCSC Ensembl
Outer	chr16:31327216..31327708	hg19	UCSC Ensembl
Inner	chr16:31234832..31235095	hg18	UCSC Ensembl
Outer	chr16:31234717..31235209	hg18	UCSC Ensembl

Cytoband

16p11.2

Allele length

Assembly	Allele length
hg38	493
hg19	493
hg18	493

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4867310

Samples

NA18507

Known Genes

ITGAM

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)

esv2052288

Frequency

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