Variant Details

Variant: essv4690488

Internal ID

7276120

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:237135179..237135207	hg38	UCSC Ensembl
Outer	chr2:237134979..237135407	hg38	UCSC Ensembl
Inner	chr2:238043822..238043850	hg19	UCSC Ensembl
Outer	chr2:238043622..238044050	hg19	UCSC Ensembl
Inner	chr2:237708561..237708589	hg18	UCSC Ensembl
Outer	chr2:237708361..237708789	hg18	UCSC Ensembl

Cytoband

2q37.3

Allele length

Assembly	Allele length
hg38	429
hg19	429
hg18	429

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2377444

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)

essv4690488

Frequency

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