Variant Details

Variant: essv4687770

Internal ID

6926716

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:15445869..15446104	hg38	UCSC Ensembl
Outer	chr1:15445826..15446158	hg38	UCSC Ensembl
Inner	chr1:15772364..15772599	hg19	UCSC Ensembl
Outer	chr1:15772321..15772653	hg19	UCSC Ensembl
Inner	chr1:15644951..15645186	hg18	UCSC Ensembl
Outer	chr1:15644908..15645240	hg18	UCSC Ensembl

Cytoband

1p36.21

Allele length

Assembly	Allele length
hg38	333
hg19	333
hg18	333

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2117572

Supporting Variants

Samples

NA18507

Known Genes

CTRC

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)

essv4687770

Frequency

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