Variant Details

Variant: esv2063708

Internal ID

7388133

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:136278704..136279796	hg38	UCSC Ensembl
Outer	chr6:136278652..136279867	hg38	UCSC Ensembl
Inner	chr6:136599842..136600934	hg19	UCSC Ensembl
Outer	chr6:136599790..136601005	hg19	UCSC Ensembl
Inner	chr6:136641535..136642627	hg18	UCSC Ensembl
Outer	chr6:136641483..136642698	hg18	UCSC Ensembl

Cytoband

6q23.3

Allele length

Assembly	Allele length
hg38	1216
hg19	1216
hg18	1216

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4499482

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)

esv2063708

Frequency

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