Variant Details

Variant: esv2058333

Internal ID

7729444

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:135340754..135344006	hg38	UCSC Ensembl
Outer	chr2:135340589..135344168	hg38	UCSC Ensembl
Inner	chr2:136098324..136101576	hg19	UCSC Ensembl
Outer	chr2:136098159..136101738	hg19	UCSC Ensembl
Inner	chr2:135814794..135818046	hg18	UCSC Ensembl
Outer	chr2:135814629..135818208	hg18	UCSC Ensembl

Cytoband

2q21.3

Allele length

Assembly	Allele length
hg38	3580
hg19	3580
hg18	3580

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4829171

Samples

NA18507

Known Genes

ZRANB3

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)

esv2058333

Frequency

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