Variant Details

Variant: essv4564918

Internal ID

7150550

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:13165404..13165444	hg38	UCSC Ensembl
Outer	chr12:13165226..13165633	hg38	UCSC Ensembl
Inner	chr12:13318338..13318378	hg19	UCSC Ensembl
Outer	chr12:13318160..13318567	hg19	UCSC Ensembl
Inner	chr12:13209605..13209645	hg18	UCSC Ensembl
Outer	chr12:13209427..13209834	hg18	UCSC Ensembl

Cytoband

12p13.1

Allele length

Assembly	Allele length
hg38	408
hg19	408
hg18	408

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2026761

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)

essv4564918

Frequency

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