Variant Details

Variant: esv2271871

Internal ID

7942982

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:130628739..130634263	hg38	UCSC Ensembl
Outer	chr3:130628529..130634467	hg38	UCSC Ensembl
Inner	chr3:130347583..130353107	hg19	UCSC Ensembl
Outer	chr3:130347373..130353311	hg19	UCSC Ensembl
Inner	chr3:131830273..131835797	hg18	UCSC Ensembl
Outer	chr3:131830063..131836001	hg18	UCSC Ensembl

Cytoband

3q22.1

Allele length

Assembly	Allele length
hg38	5939
hg19	5939
hg18	5939

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4727850

Samples

NA18507

Known Genes

COL6A6

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)

esv2271871

Frequency

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