Variant Details

Variant: essv4708559

Internal ID

7294191

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:178294250..178294512	hg38	UCSC Ensembl
Outer	chr5:178294080..178294687	hg38	UCSC Ensembl
Inner	chr5:177721251..177721513	hg19	UCSC Ensembl
Outer	chr5:177721081..177721688	hg19	UCSC Ensembl
Inner	chr5:177653857..177654119	hg18	UCSC Ensembl
Outer	chr5:177653687..177654294	hg18	UCSC Ensembl

Cytoband

5q35.3

Allele length

Assembly	Allele length
hg38	608
hg19	608
hg18	608

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2246259

Supporting Variants

Samples

NA18507

Known Genes

COL23A1

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)

essv4708559

Frequency

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