Variant Details

Variant: esv2153018

Internal ID

7477443

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr21:42569512..42569540	hg38	UCSC Ensembl
Outer	chr21:42569316..42569743	hg38	UCSC Ensembl
Inner	chr21:43989622..43989650	hg19	UCSC Ensembl
Outer	chr21:43989426..43989853	hg19	UCSC Ensembl
Inner	chr21:42862691..42862719	hg18	UCSC Ensembl
Outer	chr21:42862495..42862922	hg18	UCSC Ensembl

Cytoband

21q22.3

Allele length

Assembly	Allele length
hg38	428
hg19	428
hg18	428

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4947015

Samples

NA18507

Known Genes

SLC37A1

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)

esv2153018

Frequency

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