Variant Details

Variant: essv4755934

Internal ID

7341566

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:220112099..220112432	hg38	UCSC Ensembl
Outer	chr1:220111909..220112570	hg38	UCSC Ensembl
Inner	chr1:220285441..220285774	hg19	UCSC Ensembl
Outer	chr1:220285251..220285912	hg19	UCSC Ensembl
Inner	chr1:218352064..218352397	hg18	UCSC Ensembl
Outer	chr1:218351874..218352535	hg18	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	662
hg19	662
hg18	662

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2107700

Supporting Variants

Samples

NA18507

Known Genes

IARS2, RNU5F-1

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)

essv4755934

Frequency

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