Variant Details

Variant: esv2145066

Internal ID

7469491

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:214622688..214622894	hg38	UCSC Ensembl
Outer	chr1:214622616..214622957	hg38	UCSC Ensembl
Inner	chr1:214796031..214796237	hg19	UCSC Ensembl
Outer	chr1:214795959..214796300	hg19	UCSC Ensembl
Inner	chr1:212862654..212862860	hg18	UCSC Ensembl
Outer	chr1:212862582..212862923	hg18	UCSC Ensembl

Cytoband

1q41

Allele length

Assembly	Allele length
hg38	342
hg19	342
hg18	342

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4507931

Samples

NA18507

Known Genes

CENPF

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)

esv2145066

Frequency

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