Variant Details

Variant: essv4972773

Internal ID

7558405

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:12242083..12242430	hg38	UCSC Ensembl
Outer	chr7:12241939..12242598	hg38	UCSC Ensembl
Inner	chr7:12281709..12282056	hg19	UCSC Ensembl
Outer	chr7:12281565..12282224	hg19	UCSC Ensembl
Inner	chr7:12248234..12248581	hg18	UCSC Ensembl
Outer	chr7:12248090..12248749	hg18	UCSC Ensembl

Cytoband

7p21.3

Allele length

Assembly	Allele length
hg38	660
hg19	660
hg18	660

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2197933

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)

essv4972773

Frequency

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