Variant Details

Variant: esv2180255

Internal ID

7851367

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:176538319..176538399	hg38	UCSC Ensembl
Outer	chr2:176538176..176538542	hg38	UCSC Ensembl
Inner	chr2:177403047..177403127	hg19	UCSC Ensembl
Outer	chr2:177402904..177403270	hg19	UCSC Ensembl
Inner	chr2:177111293..177111373	hg18	UCSC Ensembl
Outer	chr2:177111150..177111516	hg18	UCSC Ensembl

Cytoband

2q31.1

Allele length

Assembly	Allele length
hg38	367
hg19	367
hg18	367

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4957857

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)

esv2180255

Frequency

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