Variant Details

Variant: essv4797639

Internal ID

7383271

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:82043402..82043723	hg38	UCSC Ensembl
Outer	chr16:82043219..82043904	hg38	UCSC Ensembl
Inner	chr16:82077007..82077328	hg19	UCSC Ensembl
Outer	chr16:82076824..82077509	hg19	UCSC Ensembl
Inner	chr16:80634508..80634829	hg18	UCSC Ensembl
Outer	chr16:80634325..80635010	hg18	UCSC Ensembl

Cytoband

16q23.3

Allele length

Assembly	Allele length
hg38	686
hg19	686
hg18	686

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2029415

Supporting Variants

Samples

NA18507

Known Genes

HSD17B2

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)

essv4797639

Frequency

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