Variant Details

Variant: essv4656585

Internal ID

6895531

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:92770474..92775905	hg38	UCSC Ensembl
Outer	chr1:92770366..92775948	hg38	UCSC Ensembl
Inner	chr1:93236031..93241462	hg19	UCSC Ensembl
Outer	chr1:93235923..93241505	hg19	UCSC Ensembl
Inner	chr1:93008619..93014050	hg18	UCSC Ensembl
Outer	chr1:93008511..93014093	hg18	UCSC Ensembl

Cytoband

1p22.1

Allele length

Assembly	Allele length
hg38	5583
hg19	5583
hg18	5583

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1938423

Supporting Variants

Samples

NA18507

Known Genes

EVI5

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)

essv4656585

Frequency

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