Variant Details

Variant: essv4629505

Internal ID

7215137

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:37860881..37860950	hg38	UCSC Ensembl
Outer	chr21:37860713..37861119	hg38	UCSC Ensembl
Inner	chr21:39233183..39233252	hg19	UCSC Ensembl
Outer	chr21:39233015..39233421	hg19	UCSC Ensembl
Inner	chr21:38155053..38155122	hg18	UCSC Ensembl
Outer	chr21:38154885..38155291	hg18	UCSC Ensembl

Cytoband

21q22.13

Allele length

Assembly	Allele length
hg38	407
hg19	407
hg18	407

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1930202

Supporting Variants

Samples

NA18507

Known Genes

KCNJ6

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)

essv4629505

Frequency

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