Variant Details

Variant: esv1972788

Internal ID

7643899

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:231167334..231167629	hg38	UCSC Ensembl
Outer	chr1:231167146..231167823	hg38	UCSC Ensembl
Inner	chr1:231303080..231303375	hg19	UCSC Ensembl
Outer	chr1:231302892..231303569	hg19	UCSC Ensembl
Inner	chr1:229369703..229369998	hg18	UCSC Ensembl
Outer	chr1:229369515..229370192	hg18	UCSC Ensembl

Cytoband

1q42.2

Allele length

Assembly	Allele length
hg38	678
hg19	678
hg18	678

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4686812

Samples

NA18507

Known Genes

TRIM67

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)

esv1972788

Frequency

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