Variant Details

Variant: essv4868823

Internal ID

7454455

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:105203493..105203638	hg38	UCSC Ensembl
Outer	chr4:105203393..105203737	hg38	UCSC Ensembl
Inner	chr4:106124650..106124795	hg19	UCSC Ensembl
Outer	chr4:106124550..106124894	hg19	UCSC Ensembl
Inner	chr4:106344099..106344244	hg18	UCSC Ensembl
Outer	chr4:106343999..106344343	hg18	UCSC Ensembl

Cytoband

4q24

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

esv1980765

Supporting Variants

Samples

NA18507

Known Genes

TET2

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)

essv4868823

Frequency

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