Variant Details

Variant: essv4680019

Internal ID

6918965

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:136279877..136289710	hg38	UCSC Ensembl
Outer	chr6:136279795..136289796	hg38	UCSC Ensembl
Inner	chr6:136601015..136610848	hg19	UCSC Ensembl
Outer	chr6:136600933..136610934	hg19	UCSC Ensembl
Inner	chr6:136642708..136652541	hg18	UCSC Ensembl
Outer	chr6:136642626..136652627	hg18	UCSC Ensembl

Cytoband

6q23.3

Allele length

Assembly	Allele length
hg38	10002
hg19	10002
hg18	10002

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2161601

Supporting Variants

Samples

NA18507

Known Genes

BCLAF1

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)

essv4680019

Frequency

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