Variant Details

Variant: essv4733837

Internal ID

7319469

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:96524331..96524349	hg38	UCSC Ensembl
Outer	chr1:96524115..96524549	hg38	UCSC Ensembl
Inner	chr1:96989887..96989905	hg19	UCSC Ensembl
Outer	chr1:96989671..96990105	hg19	UCSC Ensembl
Inner	chr1:96762475..96762493	hg18	UCSC Ensembl
Outer	chr1:96762259..96762693	hg18	UCSC Ensembl

Cytoband

1p21.3

Allele length

Assembly	Allele length
hg38	435
hg19	435
hg18	435

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1958733

Supporting Variants

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)

essv4733837

Frequency

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