Variant Details

Variant: essv4902390

Internal ID

7488022

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:19180261..19180275	hg38	UCSC Ensembl
Outer	chr3:19180046..19180487	hg38	UCSC Ensembl
Inner	chr3:19221753..19221767	hg19	UCSC Ensembl
Outer	chr3:19221538..19221979	hg19	UCSC Ensembl
Inner	chr3:19196757..19196771	hg18	UCSC Ensembl
Outer	chr3:19196542..19196983	hg18	UCSC Ensembl

Cytoband

3p24.3

Allele length

Assembly	Allele length
hg38	442
hg19	442
hg18	442

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1965258

Supporting Variants

Samples

NA18507

Known Genes

KCNH8

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)

essv4902390

Frequency

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