Variant Details

Variant: essv4912212

Internal ID

7497844

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:19495015..19495316	hg38	UCSC Ensembl
Outer	chr16:19494810..19495518	hg38	UCSC Ensembl
Inner	chr16:19506337..19506638	hg19	UCSC Ensembl
Outer	chr16:19506132..19506840	hg19	UCSC Ensembl
Inner	chr16:19413838..19414139	hg18	UCSC Ensembl
Outer	chr16:19413633..19414341	hg18	UCSC Ensembl

Cytoband

16p12.3

Allele length

Assembly	Allele length
hg38	709
hg19	709
hg18	709

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2116787

Supporting Variants

Samples

NA18507

Known Genes

TMC5

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)

essv4912212

Frequency

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