Variant Details

Variant: esv1919607

Internal ID

7248788

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:230315358..230315456	hg38	UCSC Ensembl
Outer	chr1:230315152..230315646	hg38	UCSC Ensembl
Inner	chr1:230451104..230451202	hg19	UCSC Ensembl
Outer	chr1:230450898..230451392	hg19	UCSC Ensembl
Inner	chr1:228517727..228517825	hg18	UCSC Ensembl
Outer	chr1:228517521..228518015	hg18	UCSC Ensembl

Cytoband

1q42.13

Allele length

Assembly	Allele length
hg38	495
hg19	495
hg18	495

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4539348

Samples

NA18507

Known Genes

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)

esv1919607

Frequency

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