Variant Details

Variant: esv1990641

Internal ID

7315067

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:23549712..23550350	hg38	UCSC Ensembl
Outer	chr8:23549535..23550528	hg38	UCSC Ensembl
Inner	chr8:23407225..23407863	hg19	UCSC Ensembl
Outer	chr8:23407048..23408041	hg19	UCSC Ensembl
Inner	chr8:23463170..23463808	hg18	UCSC Ensembl
Outer	chr8:23462993..23463986	hg18	UCSC Ensembl

Cytoband

8p21.2

Allele length

Assembly	Allele length
hg38	994
hg19	994
hg18	994

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4971676

Samples

NA18507

Known Genes

SLC25A37

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)

esv1990641

Frequency

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