Variant Details

Variant: esv1958657

Internal ID

7283082

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:71496828..71496943	hg38	UCSC Ensembl
Outer	chr10:71496653..71497144	hg38	UCSC Ensembl
Inner	chr10:73256585..73256700	hg19	UCSC Ensembl
Outer	chr10:73256410..73256901	hg19	UCSC Ensembl
Inner	chr10:72926591..72926706	hg18	UCSC Ensembl
Outer	chr10:72926416..72926907	hg18	UCSC Ensembl

Cytoband

10q22.1

Allele length

Assembly	Allele length
hg38	492
hg19	492
hg18	492

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4668015

Samples

NA18507

Known Genes

CDH23

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)

esv1958657

Frequency

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