Variant Details

Variant: esv2390496

Internal ID

8061607

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:26206448..26208424	hg38	UCSC Ensembl
Outer	chr7:26206377..26208503	hg38	UCSC Ensembl
Inner	chr7:26246068..26248044	hg19	UCSC Ensembl
Outer	chr7:26245997..26248123	hg19	UCSC Ensembl
Inner	chr7:26212593..26214569	hg18	UCSC Ensembl
Outer	chr7:26212522..26214648	hg18	UCSC Ensembl

Cytoband

7p15.2

Allele length

Assembly	Allele length
hg38	2127
hg19	2127
hg18	2127

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4506179

Samples

NA18507

Known Genes

CBX3

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)

esv2390496

Frequency

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