Variant Details

Variant: esv2255639

Internal ID

7926750

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:28001440..28001551	hg38	UCSC Ensembl
Outer	chr1:28001274..28001721	hg38	UCSC Ensembl
Inner	chr1:28327951..28328062	hg19	UCSC Ensembl
Outer	chr1:28327785..28328232	hg19	UCSC Ensembl
Inner	chr1:28200538..28200649	hg18	UCSC Ensembl
Outer	chr1:28200372..28200819	hg18	UCSC Ensembl

Cytoband

1p35.3

Allele length

Assembly	Allele length
hg38	448
hg19	448
hg18	448

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4919567

Samples

NA18507

Known Genes

EYA3

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)

esv2255639

Frequency

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