Variant Details

Variant: essv4798225

Internal ID

7383857

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:57030430..57030697	hg38	UCSC Ensembl
Outer	chr20:57030250..57030890	hg38	UCSC Ensembl
Inner	chr20:55605486..55605753	hg19	UCSC Ensembl
Outer	chr20:55605306..55605946	hg19	UCSC Ensembl
Inner	chr20:55038893..55039160	hg18	UCSC Ensembl
Outer	chr20:55038713..55039353	hg18	UCSC Ensembl

Cytoband

20q13.31

Allele length

Assembly	Allele length
hg38	641
hg19	641
hg18	641

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2079355

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)

essv4798225

Frequency

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