Variant Details

Variant: essv4779702

Internal ID

7365334

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:18401861..18402637	hg38	UCSC Ensembl
Outer	chr6:18401667..18402824	hg38	UCSC Ensembl
Inner	chr6:18402092..18402868	hg19	UCSC Ensembl
Outer	chr6:18401898..18403055	hg19	UCSC Ensembl
Inner	chr6:18510071..18510847	hg18	UCSC Ensembl
Outer	chr6:18509877..18511034	hg18	UCSC Ensembl

Cytoband

6p22.3

Allele length

Assembly	Allele length
hg38	1158
hg19	1158
hg18	1158

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2049444

Supporting Variants

Samples

NA18507

Known Genes

RNF144B

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)

essv4779702

Frequency

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