Variant Details

Variant: esv2039358

Internal ID

7710470

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:103984884..103985604	hg38	UCSC Ensembl
Outer	chr12:103984751..103985727	hg38	UCSC Ensembl
Inner	chr12:104378662..104379382	hg19	UCSC Ensembl
Outer	chr12:104378529..104379505	hg19	UCSC Ensembl
Inner	chr12:102902792..102903512	hg18	UCSC Ensembl
Outer	chr12:102902659..102903635	hg18	UCSC Ensembl

Cytoband

12q23.3

Allele length

Assembly	Allele length
hg38	977
hg19	977
hg18	977

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4789426

Samples

NA18507

Known Genes

TDG

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)

esv2039358

Frequency

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