Variant Details

Variant: essv4990741

Internal ID

7576373

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:2843715..2844215	hg38	UCSC Ensembl
Outer	chr12:2843569..2844325	hg38	UCSC Ensembl
Inner	chr12:2952881..2953381	hg19	UCSC Ensembl
Outer	chr12:2952735..2953491	hg19	UCSC Ensembl
Inner	chr12:2823142..2823642	hg18	UCSC Ensembl
Outer	chr12:2822996..2823752	hg18	UCSC Ensembl

Cytoband

12p13.33

Allele length

Assembly	Allele length
hg38	757
hg19	757
hg18	757

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2077692

Supporting Variants

Samples

NA18507

Known Genes

LOC100507424

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)

essv4990741

Frequency

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