Variant Details

Variant: esv2318680

Internal ID

7989791

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:199469617..199471103	hg38	UCSC Ensembl
Outer	chr1:199469407..199471315	hg38	UCSC Ensembl
Inner	chr1:199438745..199440231	hg19	UCSC Ensembl
Outer	chr1:199438535..199440443	hg19	UCSC Ensembl
Inner	chr1:197705368..197706854	hg18	UCSC Ensembl
Outer	chr1:197705158..197707066	hg18	UCSC Ensembl

Cytoband

1q32.1

Allele length

Assembly	Allele length
hg38	1909
hg19	1909
hg18	1909

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4861233

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)

esv2318680

Frequency

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