Variant Details

Variant: essv4776795

Internal ID

7362427

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:231694311..231694383	hg38	UCSC Ensembl
Outer	chr2:231694135..231694545	hg38	UCSC Ensembl
Inner	chr2:232559021..232559093	hg19	UCSC Ensembl
Outer	chr2:232558845..232559255	hg19	UCSC Ensembl
Inner	chr2:232267265..232267337	hg18	UCSC Ensembl
Outer	chr2:232267089..232267499	hg18	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	411
hg19	411
hg18	411

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2265792

Supporting Variants

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)

essv4776795

Frequency

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