Variant Details

Variant: esv1986124

Internal ID

7657235

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:136992552..136993050	hg38	UCSC Ensembl
Outer	chr6:136992375..136993220	hg38	UCSC Ensembl
Inner	chr6:137313689..137314187	hg19	UCSC Ensembl
Outer	chr6:137313512..137314357	hg19	UCSC Ensembl
Inner	chr6:137355382..137355880	hg18	UCSC Ensembl
Outer	chr6:137355205..137356050	hg18	UCSC Ensembl

Cytoband

6q23.3

Allele length

Assembly	Allele length
hg38	846
hg19	846
hg18	846

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4716152

Samples

NA18507

Known Genes

NHEG1

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)

esv1986124

Frequency

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