Variant Details

Variant: esv2362486

Internal ID

8033597

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:122669234..122669353	hg38	UCSC Ensembl
Outer	chr10:122669075..122669518	hg38	UCSC Ensembl
Inner	chr10:124428750..124428869	hg19	UCSC Ensembl
Outer	chr10:124428591..124429034	hg19	UCSC Ensembl
Inner	chr10:124418740..124418859	hg18	UCSC Ensembl
Outer	chr10:124418581..124419024	hg18	UCSC Ensembl

Cytoband

10q26.13

Allele length

Assembly	Allele length
hg38	444
hg19	444
hg18	444

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4590980

Samples

NA18507

Known Genes

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)

esv2362486

Frequency

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