Variant Details

Variant: essv4629639

Internal ID

6868585

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:72054781..72063472	hg38	UCSC Ensembl
Outer	chr16:72054699..72063557	hg38	UCSC Ensembl
Inner	chr16:72088680..72097371	hg19	UCSC Ensembl
Outer	chr16:72088598..72097456	hg19	UCSC Ensembl
Inner	chr16:70646181..70654872	hg18	UCSC Ensembl
Outer	chr16:70646099..70654957	hg18	UCSC Ensembl

Cytoband

16q22.2

Allele length

Assembly	Allele length
hg38	8859
hg19	8859
hg18	8859

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2215660

Supporting Variants

Samples

NA18507

Known Genes

HP, HPR

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)

essv4629639

Frequency

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