Variant Details

Variant: essv4590662

Internal ID

7176294

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:151760788..151761087	hg38	UCSC Ensembl
Outer	chr2:151760576..151761307	hg38	UCSC Ensembl
Inner	chr2:152617302..152617601	hg19	UCSC Ensembl
Outer	chr2:152617090..152617821	hg19	UCSC Ensembl
Inner	chr2:152325548..152325847	hg18	UCSC Ensembl
Outer	chr2:152325336..152326067	hg18	UCSC Ensembl

Cytoband

2q23.3

Allele length

Assembly	Allele length
hg38	732
hg19	732
hg18	732

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2026587

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)

essv4590662

Frequency

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