Variant Details

Variant: esv2235385

Internal ID

7559810

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:43065497..43066559	hg38	UCSC Ensembl
Outer	chr8:43065371..43066667	hg38	UCSC Ensembl
Inner	chr8:42920640..42921702	hg19	UCSC Ensembl
Outer	chr8:42920514..42921810	hg19	UCSC Ensembl
Inner	chr8:43039797..43040859	hg18	UCSC Ensembl
Outer	chr8:43039671..43040967	hg18	UCSC Ensembl

Cytoband

8p11.21

Allele length

Assembly	Allele length
hg38	1297
hg19	1297
hg18	1297

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4953959

Samples

NA18507

Known Genes

FNTA

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)

esv2235385

Frequency

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