Variant Details

Variant: esv2233433

Internal ID

7904544

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:42601885..42602101	hg38	UCSC Ensembl
Outer	chr6:42601745..42602232	hg38	UCSC Ensembl
Inner	chr6:42569623..42569839	hg19	UCSC Ensembl
Outer	chr6:42569483..42569970	hg19	UCSC Ensembl
Inner	chr6:42677601..42677817	hg18	UCSC Ensembl
Outer	chr6:42677461..42677948	hg18	UCSC Ensembl

Cytoband

6p21.1

Allele length

Assembly	Allele length
hg38	488
hg19	488
hg18	488

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4605128

Samples

NA18507

Known Genes

UBR2

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)

esv2233433

Frequency

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