Variant Details

Variant: esv2376709

Internal ID

8047820

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:55084468..55091248	hg38	UCSC Ensembl
Outer	chr5:55084417..55091306	hg38	UCSC Ensembl
Inner	chr5:54380296..54387076	hg19	UCSC Ensembl
Outer	chr5:54380245..54387134	hg19	UCSC Ensembl
Inner	chr5:54416053..54422833	hg18	UCSC Ensembl
Outer	chr5:54416002..54422891	hg18	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	6890
hg19	6890
hg18	6890

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4539392

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)

esv2376709

Frequency

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