Variant Details

Variant: esv2028436

Internal ID

7352861

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:43888041..43888441	hg38	UCSC Ensembl
Outer	chr11:43887979..43888530	hg38	UCSC Ensembl
Inner	chr11:43909591..43909991	hg19	UCSC Ensembl
Outer	chr11:43909529..43910080	hg19	UCSC Ensembl
Inner	chr11:43866167..43866567	hg18	UCSC Ensembl
Outer	chr11:43866105..43866656	hg18	UCSC Ensembl

Cytoband

11p11.2

Allele length

Assembly	Allele length
hg38	552
hg19	552
hg18	552

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4768404

Samples

NA18507

Known Genes

ALKBH3

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)

esv2028436

Frequency

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