Variant Details

Variant: esv2268996

Internal ID

7593422

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:32771876..32771955	hg38	UCSC Ensembl
Outer	chr21:32771715..32772153	hg38	UCSC Ensembl
Inner	chr21:34144187..34144266	hg19	UCSC Ensembl
Outer	chr21:34144026..34144464	hg19	UCSC Ensembl
Inner	chr21:33066058..33066137	hg18	UCSC Ensembl
Outer	chr21:33065897..33066335	hg18	UCSC Ensembl

Cytoband

21q22.11

Allele length

Assembly	Allele length
hg38	439
hg19	439
hg18	439

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4535811

Samples

NA18507

Known Genes

C21orf49, PAXBP1

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)

esv2268996

Frequency

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