Variant Details

Variant: esv2007027

Internal ID

7678139

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:137485298..137485443	hg38	UCSC Ensembl
Outer	chr9:137485141..137485587	hg38	UCSC Ensembl
Inner	chr9:140379750..140379895	hg19	UCSC Ensembl
Outer	chr9:140379593..140380039	hg19	UCSC Ensembl
Inner	chr9:139499571..139499716	hg18	UCSC Ensembl
Outer	chr9:139499414..139499860	hg18	UCSC Ensembl

Cytoband

9q34.3

Allele length

Assembly	Allele length
hg38	447
hg19	447
hg18	447

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4804056

Samples

NA18507

Known Genes

PNPLA7

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)

esv2007027

Frequency

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