Variant Details

Variant: essv4704253

Internal ID

6943199

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:113724196..113728651	hg38	UCSC Ensembl
Outer	chr1:113724145..113728712	hg38	UCSC Ensembl
Inner	chr1:114266818..114271273	hg19	UCSC Ensembl
Outer	chr1:114266767..114271334	hg19	UCSC Ensembl
Inner	chr1:114068341..114072796	hg18	UCSC Ensembl
Outer	chr1:114068290..114072857	hg18	UCSC Ensembl

Cytoband

1p13.2

Allele length

Assembly	Allele length
hg38	4568
hg19	4568
hg18	4568

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2179916

Supporting Variants

Samples

NA18507

Known Genes

PHTF1

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)

essv4704253

Frequency

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