Variant Details

Variant: esv2372613

Internal ID

7697038

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:77376550..77376710	hg38	UCSC Ensembl
Outer	chr10:77376450..77376827	hg38	UCSC Ensembl
Inner	chr10:79136308..79136468	hg19	UCSC Ensembl
Outer	chr10:79136208..79136585	hg19	UCSC Ensembl
Inner	chr10:78806314..78806474	hg18	UCSC Ensembl
Outer	chr10:78806214..78806591	hg18	UCSC Ensembl

Cytoband

10q22.3

Allele length

Assembly	Allele length
hg38	378
hg19	378
hg18	378

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4620133

Samples

NA18507

Known Genes

KCNMA1

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)

esv2372613

Frequency

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