Variant Details

Variant: essv4607872

Internal ID

7193504

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:61565648..61565658	hg38	UCSC Ensembl
Outer	chr8:61565435..61565887	hg38	UCSC Ensembl
Inner	chr8:62478207..62478217	hg19	UCSC Ensembl
Outer	chr8:62477994..62478446	hg19	UCSC Ensembl
Inner	chr8:62640761..62640771	hg18	UCSC Ensembl
Outer	chr8:62640548..62641000	hg18	UCSC Ensembl

Cytoband

8q12.3

Allele length

Assembly	Allele length
hg38	453
hg19	453
hg18	453

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1949409

Supporting Variants

Samples

NA18507

Known Genes

ASPH

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)

essv4607872

Frequency

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