Variant Details

Variant: essv4740771

Internal ID

6979717

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:113839354..113839447	hg38	UCSC Ensembl
Outer	chr13:113839192..113839603	hg38	UCSC Ensembl
Inner	chr13:114542327..114542420	hg19	UCSC Ensembl
Outer	chr13:114542165..114542576	hg19	UCSC Ensembl
Inner	chr13:113571523..113571616	hg18	UCSC Ensembl
Outer	chr13:113571367..113571778	hg18	UCSC Ensembl

Cytoband

13q34

Allele length

Assembly	Allele length
hg38	412
hg19	412
hg18	412

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1993584

Supporting Variants

Samples

NA18507

Known Genes

GAS6, GAS6-AS1

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)

essv4740771

Frequency

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