Variant Details

Variant: essv4833967

Internal ID

7072913

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:67479915..67480219	hg38	UCSC Ensembl
Outer	chr16:67479715..67480434	hg38	UCSC Ensembl
Inner	chr16:67513818..67514122	hg19	UCSC Ensembl
Outer	chr16:67513618..67514337	hg19	UCSC Ensembl
Inner	chr16:66071319..66071623	hg18	UCSC Ensembl
Outer	chr16:66071119..66071838	hg18	UCSC Ensembl

Cytoband

16q22.1

Allele length

Assembly	Allele length
hg38	720
hg19	720
hg18	720

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2247849

Supporting Variants

Samples

NA18507

Known Genes

ATP6V0D1

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)

essv4833967

Frequency

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