Variant Details

Variant: esv2230348

Internal ID

7901459

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:171488021..171488061	hg38	UCSC Ensembl
Outer	chr1:171487828..171488260	hg38	UCSC Ensembl
Inner	chr1:171457160..171457200	hg19	UCSC Ensembl
Outer	chr1:171456967..171457399	hg19	UCSC Ensembl
Inner	chr1:169723784..169723824	hg18	UCSC Ensembl
Outer	chr1:169723591..169724023	hg18	UCSC Ensembl

Cytoband

1q24.3

Allele length

Assembly	Allele length
hg38	433
hg19	433
hg18	433

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4693220

Samples

NA18507

Known Genes

PRRC2C

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)

esv2230348

Frequency

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