Variant Details

Variant: esv2252743

Internal ID

7923854

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:28131065..28131379	hg38	UCSC Ensembl
Outer	chr2:28130868..28131576	hg38	UCSC Ensembl
Inner	chr2:28353932..28354246	hg19	UCSC Ensembl
Outer	chr2:28353735..28354443	hg19	UCSC Ensembl
Inner	chr2:28207436..28207750	hg18	UCSC Ensembl
Outer	chr2:28207239..28207947	hg18	UCSC Ensembl

Cytoband

2p23.2

Allele length

Assembly	Allele length
hg38	709
hg19	709
hg18	709

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4946561

Samples

NA18507

Known Genes

BRE

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)

esv2252743

Frequency

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