Variant Details

Variant: essv4984664

Internal ID

7223610

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:9971815..9971954	hg38	UCSC Ensembl
Outer	chr19:9971663..9972100	hg38	UCSC Ensembl
Inner	chr19:10082491..10082630	hg19	UCSC Ensembl
Outer	chr19:10082339..10082776	hg19	UCSC Ensembl
Inner	chr19:9943491..9943630	hg18	UCSC Ensembl
Outer	chr19:9943339..9943776	hg18	UCSC Ensembl

Cytoband

19p13.2

Allele length

Assembly	Allele length
hg38	438
hg19	438
hg18	438

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2406867

Supporting Variants

Samples

NA18507

Known Genes

COL5A3

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)

essv4984664

Frequency

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