Variant Details

Variant: essv4898013

Internal ID

7483645

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:103983360..103984749	hg38	UCSC Ensembl
Outer	chr12:103983148..103984902	hg38	UCSC Ensembl
Inner	chr12:104377138..104378527	hg19	UCSC Ensembl
Outer	chr12:104376926..104378680	hg19	UCSC Ensembl
Inner	chr12:102901268..102902657	hg18	UCSC Ensembl
Outer	chr12:102901056..102902810	hg18	UCSC Ensembl

Cytoband

12q23.3

Allele length

Assembly	Allele length
hg38	1755
hg19	1755
hg18	1755

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2137081

Supporting Variants

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)

essv4898013

Frequency

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