Variant Details

Variant: essv4497119

Internal ID

7082751

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:94093942..94094246	hg38	UCSC Ensembl
Outer	chr10:94093751..94094450	hg38	UCSC Ensembl
Inner	chr10:95853699..95854003	hg19	UCSC Ensembl
Outer	chr10:95853508..95854207	hg19	UCSC Ensembl
Inner	chr10:95843689..95843993	hg18	UCSC Ensembl
Outer	chr10:95843498..95844197	hg18	UCSC Ensembl

Cytoband

10q23.33

Allele length

Assembly	Allele length
hg38	700
hg19	700
hg18	700

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1967938

Supporting Variants

Samples

NA18507

Known Genes

PLCE1

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)

essv4497119

Frequency

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