Variant Details

Variant: essv4908385

Internal ID

7494017

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:123854659..123855440	hg38	UCSC Ensembl
Outer	chr9:123854601..123855518	hg38	UCSC Ensembl
Inner	chr9:126616938..126617719	hg19	UCSC Ensembl
Outer	chr9:126616880..126617797	hg19	UCSC Ensembl
Inner	chr9:125656759..125657540	hg18	UCSC Ensembl
Outer	chr9:125656701..125657618	hg18	UCSC Ensembl

Cytoband

9q33.2

Allele length

Assembly	Allele length
hg38	918
hg19	918
hg18	918

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2007710

Supporting Variants

Samples

NA18507

Known Genes

DENND1A

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)

essv4908385

Frequency

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