Variant Details

Variant: essv4708000

Internal ID

7293632

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:44179782..44179874	hg38	UCSC Ensembl
Outer	chr10:44179609..44180055	hg38	UCSC Ensembl
Inner	chr10:44675230..44675322	hg19	UCSC Ensembl
Outer	chr10:44675057..44675503	hg19	UCSC Ensembl
Inner	chr10:43995236..43995328	hg18	UCSC Ensembl
Outer	chr10:43995063..43995509	hg18	UCSC Ensembl

Cytoband

10q11.21

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

esv2256908

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4708000

Frequency

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