Variant Details

Variant: esv2027100

Internal ID

7698211

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:145020315..145020341	hg38	UCSC Ensembl
Outer	chr2:145020123..145020542	hg38	UCSC Ensembl
Inner	chr2:145777882..145777908	hg19	UCSC Ensembl
Outer	chr2:145777690..145778109	hg19	UCSC Ensembl
Inner	chr2:145494352..145494378	hg18	UCSC Ensembl
Outer	chr2:145494160..145494579	hg18	UCSC Ensembl

Cytoband

2q22.3

Allele length

Assembly	Allele length
hg38	420
hg19	420
hg18	420

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4721775

Samples

NA18507

Known Genes

TEX41

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)

esv2027100

Frequency

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