Variant Details

Variant: essv4618797

Internal ID

6857743

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:132620895..132620936	hg38	UCSC Ensembl
Outer	chr12:132620706..132621137	hg38	UCSC Ensembl
Inner	chr12:133197481..133197522	hg19	UCSC Ensembl
Outer	chr12:133197292..133197723	hg19	UCSC Ensembl
Inner	chr12:131707554..131707595	hg18	UCSC Ensembl
Outer	chr12:131707365..131707796	hg18	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	432
hg19	432
hg18	432

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2176473

Supporting Variants

Samples

NA18507

Known Genes

P2RX2

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)

essv4618797

Frequency

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