Variant Details

Variant: essv4888376

Internal ID

7127322

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:136273184..136275594	hg38	UCSC Ensembl
Outer	chr6:136273107..136275700	hg38	UCSC Ensembl
Inner	chr6:136594322..136596732	hg19	UCSC Ensembl
Outer	chr6:136594245..136596838	hg19	UCSC Ensembl
Inner	chr6:136636015..136638425	hg18	UCSC Ensembl
Outer	chr6:136635938..136638531	hg18	UCSC Ensembl

Cytoband

6q23.3

Allele length

Assembly	Allele length
hg38	2594
hg19	2594
hg18	2594

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1925105

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)

essv4888376

Frequency

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