Variant Details

Variant: essv4958036

Internal ID

7543668

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:92488451..92488691	hg38	UCSC Ensembl
Outer	chr14:92488345..92488788	hg38	UCSC Ensembl
Inner	chr14:92954795..92955035	hg19	UCSC Ensembl
Outer	chr14:92954689..92955132	hg19	UCSC Ensembl
Inner	chr14:92024548..92024788	hg18	UCSC Ensembl
Outer	chr14:92024442..92024885	hg18	UCSC Ensembl

Cytoband

14q32.12

Allele length

Assembly	Allele length
hg38	444
hg19	444
hg18	444

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2172968

Supporting Variants

Samples

NA18507

Known Genes

SLC24A4

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)

essv4958036

Frequency

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