Variant Details

Variant: esv2245776

Internal ID

7916888

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:231165033..231165072	hg38	UCSC Ensembl
Outer	chr2:231164845..231165255	hg38	UCSC Ensembl
Inner	chr2:232029747..232029786	hg19	UCSC Ensembl
Outer	chr2:232029559..232029969	hg19	UCSC Ensembl
Inner	chr2:231737991..231738030	hg18	UCSC Ensembl
Outer	chr2:231737803..231738213	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

Supporting Variants

essv4843068

Samples

NA18507

Known Genes

PSMD1

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)

esv2245776

Frequency

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