Variant Details

Variant: esv2399025

Internal ID

7723450

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:35803103..35803401	hg38	UCSC Ensembl
Outer	chr9:35802918..35803597	hg38	UCSC Ensembl
Inner	chr9:35803100..35803398	hg19	UCSC Ensembl
Outer	chr9:35802915..35803594	hg19	UCSC Ensembl
Inner	chr9:35793100..35793398	hg18	UCSC Ensembl
Outer	chr9:35792915..35793594	hg18	UCSC Ensembl

Cytoband

9p13.3

Allele length

Assembly	Allele length
hg38	680
hg19	680
hg18	680

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4961477

Samples

NA18507

Known Genes

NPR2

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)

esv2399025

Frequency

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