Variant Details

Variant: esv2270804

Internal ID

7941915

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:104508873..104509174	hg38	UCSC Ensembl
Outer	chr13:104508678..104509378	hg38	UCSC Ensembl
Inner	chr13:105161224..105161525	hg19	UCSC Ensembl
Outer	chr13:105161029..105161729	hg19	UCSC Ensembl
Inner	chr13:103959225..103959526	hg18	UCSC Ensembl
Outer	chr13:103959030..103959730	hg18	UCSC Ensembl

Cytoband

13q33.2

Allele length

Assembly	Allele length
hg38	701
hg19	701
hg18	701

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4520627

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)

esv2270804

Frequency

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