Variant Details

Variant: essv4781861

Internal ID

7020807

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:104320120..104320273	hg38	UCSC Ensembl
Outer	chr10:104319922..104320457	hg38	UCSC Ensembl
Inner	chr10:106079878..106080031	hg19	UCSC Ensembl
Outer	chr10:106079680..106080215	hg19	UCSC Ensembl
Inner	chr10:106069868..106070021	hg18	UCSC Ensembl
Outer	chr10:106069670..106070205	hg18	UCSC Ensembl

Cytoband

10q25.1

Allele length

Assembly	Allele length
hg38	536
hg19	536
hg18	536

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1968684

Supporting Variants

Samples

NA18507

Known Genes

ITPRIP

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)

essv4781861

Frequency

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