Variant Details

Variant: esv2059408

Internal ID

7730519

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:80568323..80568373	hg38	UCSC Ensembl
Outer	chr16:80568112..80568594	hg38	UCSC Ensembl
Inner	chr16:80602220..80602270	hg19	UCSC Ensembl
Outer	chr16:80602009..80602491	hg19	UCSC Ensembl
Inner	chr16:79159721..79159771	hg18	UCSC Ensembl
Outer	chr16:79159510..79159992	hg18	UCSC Ensembl

Cytoband

16q23.2

Allele length

Assembly	Allele length
hg38	483
hg19	483
hg18	483

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4745293

Samples

NA18507

Known Genes

LOC101928276, MIR548H4

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)

esv2059408

Frequency

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