Variant Details

Variant: essv4830107

Internal ID

7069053

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:183955681..183955706	hg38	UCSC Ensembl
Outer	chr1:183955484..183955907	hg38	UCSC Ensembl
Inner	chr1:183924815..183924840	hg19	UCSC Ensembl
Outer	chr1:183924618..183925041	hg19	UCSC Ensembl
Inner	chr1:182191438..182191463	hg18	UCSC Ensembl
Outer	chr1:182191241..182191664	hg18	UCSC Ensembl

Cytoband

1q25.3

Allele length

Assembly	Allele length
hg38	424
hg19	424
hg18	424

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2010262

Supporting Variants

Samples

NA18507

Known Genes

COLGALT2

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)

essv4830107

Frequency

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