Variant Details

Variant: essv4952306

Internal ID

7537938

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:3832395..3832542	hg38	UCSC Ensembl
Outer	chr1:3832307..3832651	hg38	UCSC Ensembl
Inner	chr1:3748959..3749106	hg19	UCSC Ensembl
Outer	chr1:3748871..3749215	hg19	UCSC Ensembl
Inner	chr1:3738819..3738966	hg18	UCSC Ensembl
Outer	chr1:3738731..3739075	hg18	UCSC Ensembl

Cytoband

1p36.32

Allele length

Assembly	Allele length
hg38	345
hg19	345
hg18	345

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1948239

Supporting Variants

Samples

NA18507

Known Genes

CEP104

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)

essv4952306

Frequency

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