Variant Details

Variant: essv4685387

Internal ID

7271019

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr4:182970985..182971158	hg38	UCSC Ensembl
Outer	chr4:182970889..182971266	hg38	UCSC Ensembl
Inner	chr4:183892138..183892311	hg19	UCSC Ensembl
Outer	chr4:183892042..183892419	hg19	UCSC Ensembl
Inner	chr4:184129132..184129305	hg18	UCSC Ensembl
Outer	chr4:184129036..184129413	hg18	UCSC Ensembl

Cytoband

4q35.1

Allele length

Assembly	Allele length
hg38	378
hg19	378
hg18	378

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2124645

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4685387

Frequency

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