Variant Details

Variant: esv2186126

Internal ID

7857239

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:211111762..211111995	hg38	UCSC Ensembl
Outer	chr1:211111709..211112053	hg38	UCSC Ensembl
Inner	chr1:211285104..211285337	hg19	UCSC Ensembl
Outer	chr1:211285051..211285395	hg19	UCSC Ensembl
Inner	chr1:209351727..209351960	hg18	UCSC Ensembl
Outer	chr1:209351674..209352018	hg18	UCSC Ensembl

Cytoband

1q32.2

Allele length

Assembly	Allele length
hg38	345
hg19	345
hg18	345

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4658662

Samples

NA18507

Known Genes

KCNH1

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)

esv2186126

Frequency

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