Variant Details

Variant: esv2157596

Internal ID

7828707

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:4705970..4706056	hg38	UCSC Ensembl
Outer	chr7:4705836..4706215	hg38	UCSC Ensembl
Inner	chr7:4745601..4745687	hg19	UCSC Ensembl
Outer	chr7:4745467..4745846	hg19	UCSC Ensembl
Inner	chr7:4712127..4712213	hg18	UCSC Ensembl
Outer	chr7:4711993..4712372	hg18	UCSC Ensembl

Cytoband

7p22.1

Allele length

Assembly	Allele length
hg38	380
hg19	380
hg18	380

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4636555

Samples

NA18507

Known Genes

FOXK1

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)

esv2157596

Frequency

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