Variant Details

Variant: esv2388236

Internal ID

7712661

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:73203813..73204115	hg38	UCSC Ensembl
Outer	chr2:73203627..73204296	hg38	UCSC Ensembl
Inner	chr2:73430941..73431243	hg19	UCSC Ensembl
Outer	chr2:73430755..73431424	hg19	UCSC Ensembl
Inner	chr2:73284449..73284751	hg18	UCSC Ensembl
Outer	chr2:73284263..73284932	hg18	UCSC Ensembl

Cytoband

2p13.2

Allele length

Assembly	Allele length
hg38	670
hg19	670
hg18	670

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4940753

Samples

NA18507

Known Genes

NOTO

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)

esv2388236

Frequency

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