Variant Details

Variant: esv1994448

Internal ID

7318873

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:132213032..132213256	hg38	UCSC Ensembl
Outer	chr12:132212910..132213364	hg38	UCSC Ensembl
Inner	chr12:132697577..132697801	hg19	UCSC Ensembl
Outer	chr12:132697455..132697909	hg19	UCSC Ensembl
Inner	chr12:131263530..131263754	hg18	UCSC Ensembl
Outer	chr12:131263408..131263862	hg18	UCSC Ensembl

Cytoband

12q24.33

Allele length

Assembly	Allele length
hg38	455
hg19	455
hg18	455

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4537623

Samples

NA18507

Known Genes

GALNT9

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)

esv1994448

Frequency

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