Variant Details

Variant: essv4856017

Internal ID

7094963

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:2591357..2591663	hg38	UCSC Ensembl
Outer	chr3:2591171..2591860	hg38	UCSC Ensembl
Inner	chr3:2633041..2633347	hg19	UCSC Ensembl
Outer	chr3:2632855..2633544	hg19	UCSC Ensembl
Inner	chr3:2608041..2608347	hg18	UCSC Ensembl
Outer	chr3:2607855..2608544	hg18	UCSC Ensembl

Cytoband

3p26.3

Allele length

Assembly	Allele length
hg38	690
hg19	690
hg18	690

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2202540

Supporting Variants

Samples

NA18507

Known Genes

CNTN4

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)

essv4856017

Frequency

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