Variant Details

Variant: essv4926337

Internal ID

7511969

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:50301103..50301189	hg38	UCSC Ensembl
Outer	chr20:50300898..50301384	hg38	UCSC Ensembl
Inner	chr20:48917640..48917726	hg19	UCSC Ensembl
Outer	chr20:48917435..48917921	hg19	UCSC Ensembl
Inner	chr20:48351047..48351133	hg18	UCSC Ensembl
Outer	chr20:48350842..48351328	hg18	UCSC Ensembl

Cytoband

20q13.13

Allele length

Assembly	Allele length
hg38	487
hg19	487
hg18	487

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2369806

Supporting Variants

Samples

NA18507

Known Genes

LOC284751

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)

essv4926337

Frequency

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