Variant Details

Variant: essv4839502

Internal ID

7425134

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:17690203..17690526	hg38	UCSC Ensembl
Outer	chr3:17690012..17690718	hg38	UCSC Ensembl
Inner	chr3:17731695..17732018	hg19	UCSC Ensembl
Outer	chr3:17731504..17732210	hg19	UCSC Ensembl
Inner	chr3:17706699..17707022	hg18	UCSC Ensembl
Outer	chr3:17706508..17707214	hg18	UCSC Ensembl

Cytoband

3p24.3

Allele length

Assembly	Allele length
hg38	707
hg19	707
hg18	707

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2211188

Supporting Variants

Samples

NA18507

Known Genes

TBC1D5

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)

essv4839502

Frequency

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