Variant Details

Variant: esv2325810

Internal ID

7650236

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:72637016..72637161	hg38	UCSC Ensembl
Outer	chr11:72636831..72637355	hg38	UCSC Ensembl
Inner	chr11:72348060..72348205	hg19	UCSC Ensembl
Outer	chr11:72347875..72348399	hg19	UCSC Ensembl
Inner	chr11:72025708..72025853	hg18	UCSC Ensembl
Outer	chr11:72025523..72026047	hg18	UCSC Ensembl

Cytoband

11q13.4

Allele length

Assembly	Allele length
hg38	525
hg19	525
hg18	525

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4799458

Samples

NA18507

Known Genes

PDE2A

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)

esv2325810

Frequency

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