Variant Details

Variant: esv2063559

Internal ID

7734670

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:13868581..13868727	hg38	UCSC Ensembl
Outer	chr3:13868451..13868886	hg38	UCSC Ensembl
Inner	chr3:13910078..13910224	hg19	UCSC Ensembl
Outer	chr3:13909948..13910383	hg19	UCSC Ensembl
Inner	chr3:13885079..13885225	hg18	UCSC Ensembl
Outer	chr3:13884949..13885384	hg18	UCSC Ensembl

Cytoband

3p25.1

Allele length

Assembly	Allele length
hg38	436
hg19	436
hg18	436

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4875316

Samples

NA18507

Known Genes

WNT7A

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)

esv2063559

Frequency

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