Variant Details

Variant: essv4748181

Internal ID

7333813

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:55488664..55488952	hg38	UCSC Ensembl
Outer	chr8:55488448..55489166	hg38	UCSC Ensembl
Inner	chr8:56401224..56401512	hg19	UCSC Ensembl
Outer	chr8:56401008..56401726	hg19	UCSC Ensembl
Inner	chr8:56563778..56564066	hg18	UCSC Ensembl
Outer	chr8:56563562..56564280	hg18	UCSC Ensembl

Cytoband

8q12.1

Allele length

Assembly	Allele length
hg38	719
hg19	719
hg18	719

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2060022

Supporting Variants

Samples

NA18507

Known Genes

XKR4

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)

essv4748181

Frequency

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