Variant Details

Variant: esv1974835

Internal ID

7645946

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:141005787..141006089	hg38	UCSC Ensembl
Outer	chr4:141005586..141006265	hg38	UCSC Ensembl
Inner	chr4:141926941..141927243	hg19	UCSC Ensembl
Outer	chr4:141926740..141927419	hg19	UCSC Ensembl
Inner	chr4:142146391..142146693	hg18	UCSC Ensembl
Outer	chr4:142146190..142146869	hg18	UCSC Ensembl

Cytoband

4q31.21

Allele length

Assembly	Allele length
hg38	680
hg19	680
hg18	680

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4947432

Samples

NA18507

Known Genes

RNF150

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)

esv1974835

Frequency

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