Variant Details

Variant: esv2419492

Internal ID

8090604

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:8372059..8372382	hg38	UCSC Ensembl
Outer	chr18:8371880..8372575	hg38	UCSC Ensembl
Inner	chr18:8372057..8372380	hg19	UCSC Ensembl
Outer	chr18:8371878..8372573	hg19	UCSC Ensembl
Inner	chr18:8362057..8362380	hg18	UCSC Ensembl
Outer	chr18:8361878..8362573	hg18	UCSC Ensembl

Cytoband

18p11.23

Allele length

Assembly	Allele length
hg38	696
hg19	696
hg18	696

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4600508

Samples

NA18507

Known Genes

PTPRM

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)

esv2419492

Frequency

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