Variant Details

Variant: esv2159041

Internal ID

7483467

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:42257988..42258184	hg38	UCSC Ensembl
Outer	chr21:42257808..42258366	hg38	UCSC Ensembl
Inner	chr21:43678098..43678294	hg19	UCSC Ensembl
Outer	chr21:43677918..43678476	hg19	UCSC Ensembl
Inner	chr21:42551167..42551363	hg18	UCSC Ensembl
Outer	chr21:42550987..42551545	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	559
hg19	559
hg18	559

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4542630

Samples

NA18507

Known Genes

ABCG1

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)

esv2159041

Frequency

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