Variant Details

Variant: esv2382110

Internal ID

7706535

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:132847936..132848014	hg38	UCSC Ensembl
Outer	chr12:132847748..132848207	hg38	UCSC Ensembl
Inner	chr12:133424522..133424600	hg19	UCSC Ensembl
Outer	chr12:133424334..133424793	hg19	UCSC Ensembl
Inner	chr12:131934595..131934673	hg18	UCSC Ensembl
Outer	chr12:131934407..131934866	hg18	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	460
hg19	460
hg18	460

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4835280

Samples

NA18507

Known Genes

CHFR

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)

esv2382110

Frequency

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