Variant Details

Variant: esv2122831

Internal ID

7793942

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:9212463..9212639	hg38	UCSC Ensembl
Outer	chr3:9212364..9212743	hg38	UCSC Ensembl
Inner	chr3:9254147..9254323	hg19	UCSC Ensembl
Outer	chr3:9254048..9254427	hg19	UCSC Ensembl
Inner	chr3:9229147..9229323	hg18	UCSC Ensembl
Outer	chr3:9229048..9229427	hg18	UCSC Ensembl

Cytoband

3p25.3

Allele length

Assembly	Allele length
hg38	380
hg19	380
hg18	380

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4676011

Samples

NA18507

Known Genes

SRGAP3

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)

esv2122831

Frequency

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