Variant Details

Variant: essv4647894

Internal ID

7233526

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:176509092..176509631	hg38	UCSC Ensembl
Outer	chr1:176508907..176509845	hg38	UCSC Ensembl
Inner	chr1:176478228..176478767	hg19	UCSC Ensembl
Outer	chr1:176478043..176478981	hg19	UCSC Ensembl
Inner	chr1:174744851..174745390	hg18	UCSC Ensembl
Outer	chr1:174744666..174745604	hg18	UCSC Ensembl

Cytoband

1q25.2

Allele length

Assembly	Allele length
hg38	939
hg19	939
hg18	939

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2094934

Supporting Variants

Samples

NA18507

Known Genes

PAPPA2

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)

essv4647894

Frequency

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