Variant Details

Variant: esv2383612

Internal ID

8054723

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:11388051..11389699	hg38	UCSC Ensembl
Outer	chr8:11387870..11389881	hg38	UCSC Ensembl
Inner	chr8:11245560..11247208	hg19	UCSC Ensembl
Outer	chr8:11245379..11247390	hg19	UCSC Ensembl
Inner	chr8:11282970..11284618	hg18	UCSC Ensembl
Outer	chr8:11282789..11284800	hg18	UCSC Ensembl

Cytoband

8p23.1

Allele length

Assembly	Allele length
hg38	2012
hg19	2012
hg18	2012

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4716477

Samples

NA18507

Known Genes

C8orf12

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)

esv2383612

Frequency

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