Variant Details

Variant: esv2310757

Internal ID

7981868

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:2792760..2793157	hg38	UCSC Ensembl
Outer	chr2:2792544..2793338	hg38	UCSC Ensembl
Inner	chr2:2796532..2796929	hg19	UCSC Ensembl
Outer	chr2:2796316..2797110	hg19	UCSC Ensembl
Inner	chr2:2775539..2775936	hg18	UCSC Ensembl
Outer	chr2:2775323..2776117	hg18	UCSC Ensembl

Cytoband

2p25.3

Allele length

Assembly	Allele length
hg38	795
hg19	795
hg18	795

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4781502

Samples

NA18507

Known Genes

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)

esv2310757

Frequency

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