Variant Details

Variant: esv2047171

Internal ID

7718282

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:116289088..116289257	hg38	UCSC Ensembl
Outer	chr9:116288972..116289353	hg38	UCSC Ensembl
Inner	chr9:119051367..119051536	hg19	UCSC Ensembl
Outer	chr9:119051251..119051632	hg19	UCSC Ensembl
Inner	chr9:118091188..118091357	hg18	UCSC Ensembl
Outer	chr9:118091072..118091453	hg18	UCSC Ensembl

Cytoband

9q33.1

Allele length

Assembly	Allele length
hg38	382
hg19	382
hg18	382

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4845514

Samples

NA18507

Known Genes

PAPPA

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)

esv2047171

Frequency

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