Variant Details

Variant: esv2067397

Internal ID

7738508

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:120886183..120886196	hg38	UCSC Ensembl
Outer	chr2:120885972..120886419	hg38	UCSC Ensembl
Inner	chr2:121643759..121643772	hg19	UCSC Ensembl
Outer	chr2:121643548..121643995	hg19	UCSC Ensembl
Inner	chr2:121360229..121360242	hg18	UCSC Ensembl
Outer	chr2:121360018..121360465	hg18	UCSC Ensembl

Cytoband

2q14.2

Allele length

Assembly	Allele length
hg38	448
hg19	448
hg18	448

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4990625

Samples

NA18507

Known Genes

GLI2

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)

esv2067397

Frequency

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