Variant Details

Variant: esv1943412

Internal ID

7267837

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:121747153..121748093	hg38	UCSC Ensembl
Outer	chr12:121747091..121748135	hg38	UCSC Ensembl
Inner	chr12:122185059..122185999	hg19	UCSC Ensembl
Outer	chr12:122184997..122186041	hg19	UCSC Ensembl
Inner	chr12:120669442..120670382	hg18	UCSC Ensembl
Outer	chr12:120669380..120670424	hg18	UCSC Ensembl

Cytoband

12q24.31

Allele length

Assembly	Allele length
hg38	1045
hg19	1045
hg18	1045

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4525050

Samples

NA18507

Known Genes

TMEM120B

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)

esv1943412

Frequency

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