Variant Details

Variant: esv1982590

Internal ID

7653701

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:116429670..116429967	hg38	UCSC Ensembl
Outer	chr6:116429477..116430179	hg38	UCSC Ensembl
Inner	chr6:116750833..116751130	hg19	UCSC Ensembl
Outer	chr6:116750640..116751342	hg19	UCSC Ensembl
Inner	chr6:116857526..116857823	hg18	UCSC Ensembl
Outer	chr6:116857333..116858035	hg18	UCSC Ensembl

Cytoband

6q22.1

Allele length

Assembly	Allele length
hg38	703
hg19	703
hg18	703

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4684991

Samples

NA18507

Known Genes

DSE

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)

esv1982590

Frequency

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