Variant Details

Variant: esv2239902

Internal ID

7564328

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:51197072..51197236	hg38	UCSC Ensembl
Outer	chr12:51196943..51197325	hg38	UCSC Ensembl
Inner	chr12:51590855..51591019	hg19	UCSC Ensembl
Outer	chr12:51590726..51591108	hg19	UCSC Ensembl
Inner	chr12:49877122..49877286	hg18	UCSC Ensembl
Outer	chr12:49876993..49877375	hg18	UCSC Ensembl

Cytoband

12q13.13

Allele length

Assembly	Allele length
hg38	383
hg19	383
hg18	383

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4602658

Samples

NA18507

Known Genes

POU6F1

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)

esv2239902

Frequency

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