Variant Details

Variant: essv4643083

Internal ID

7228715

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:230460596..230460922	hg38	UCSC Ensembl
Outer	chr2:230460382..230461134	hg38	UCSC Ensembl
Inner	chr2:231325311..231325637	hg19	UCSC Ensembl
Outer	chr2:231325097..231325849	hg19	UCSC Ensembl
Inner	chr2:231033555..231033881	hg18	UCSC Ensembl
Outer	chr2:231033341..231034093	hg18	UCSC Ensembl

Cytoband

2q37.1

Allele length

Assembly	Allele length
hg38	753
hg19	753
hg18	753

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2087998

Supporting Variants

Samples

NA18507

Known Genes

SP100

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)

essv4643083

Frequency

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