Variant Details

Variant: esv2393598

Internal ID

8064709

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:49938971..49940793	hg38	UCSC Ensembl
Outer	chr13:49938855..49940908	hg38	UCSC Ensembl
Inner	chr13:50513107..50514929	hg19	UCSC Ensembl
Outer	chr13:50512991..50515044	hg19	UCSC Ensembl
Inner	chr13:49411108..49412930	hg18	UCSC Ensembl
Outer	chr13:49410992..49413045	hg18	UCSC Ensembl

Cytoband

13q14.2

Allele length

Assembly	Allele length
hg38	2054
hg19	2054
hg18	2054

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4839862

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)

esv2393598

Frequency

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