Variant Details

Variant: esv2051136

Internal ID

7375561

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:52302213..52302385	hg38	UCSC Ensembl
Outer	chr10:52302096..52302489	hg38	UCSC Ensembl
Inner	chr10:54061973..54062145	hg19	UCSC Ensembl
Outer	chr10:54061856..54062249	hg19	UCSC Ensembl
Inner	chr10:53731979..53732151	hg18	UCSC Ensembl
Outer	chr10:53731862..53732255	hg18	UCSC Ensembl

Cytoband

10q21.1

Allele length

Assembly	Allele length
hg38	394
hg19	394
hg18	394

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4763726

Samples

NA18507

Known Genes

PRKG1-AS1

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)

esv2051136

Frequency

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