Variant Details

Variant: esv2235568

Internal ID

7559993

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr14:64748164..64748262	hg38	UCSC Ensembl
Outer	chr14:64747984..64748437	hg38	UCSC Ensembl
Inner	chr14:65214882..65214980	hg19	UCSC Ensembl
Outer	chr14:65214702..65215155	hg19	UCSC Ensembl
Inner	chr14:64284635..64284733	hg18	UCSC Ensembl
Outer	chr14:64284455..64284908	hg18	UCSC Ensembl

Cytoband

14q23.3

Allele length

Assembly	Allele length
hg38	454
hg19	454
hg18	454

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4509917

Samples

NA18507

Known Genes

SPTB

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)

esv2235568

Frequency

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