Variant Details

Variant: esv2205262

Internal ID

7529687

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:86145218..86145404	hg38	UCSC Ensembl
Outer	chr4:86145046..86145601	hg38	UCSC Ensembl
Inner	chr4:87066371..87066557	hg19	UCSC Ensembl
Outer	chr4:87066199..87066754	hg19	UCSC Ensembl
Inner	chr4:87285395..87285581	hg18	UCSC Ensembl
Outer	chr4:87285223..87285778	hg18	UCSC Ensembl

Cytoband

4q21.3

Allele length

Assembly	Allele length
hg38	556
hg19	556
hg18	556

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv25e194

Supporting Variants

essv4531989

Samples

NA18507

Known Genes

MAPK10

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)

esv2205262

Frequency

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