Variant Details

Variant: essv4683989

Internal ID

7269621

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:39696264..39696320	hg38	UCSC Ensembl
Outer	chr8:39696081..39696491	hg38	UCSC Ensembl
Inner	chr8:39553783..39553839	hg19	UCSC Ensembl
Outer	chr8:39553600..39554010	hg19	UCSC Ensembl
Inner	chr8:39672940..39672996	hg18	UCSC Ensembl
Outer	chr8:39672757..39673167	hg18	UCSC Ensembl

Cytoband

8p11.22

Allele length

Assembly	Allele length
hg38	411
hg19	411
hg18	411

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2225914

Supporting Variants

Samples

NA18507

Known Genes

ADAM18

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)

essv4683989

Frequency

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