Variant Details

Variant: esv2301238

Internal ID

7972349

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:41985627..41985928	hg38	UCSC Ensembl
Outer	chr6:41985423..41986130	hg38	UCSC Ensembl
Inner	chr6:41953365..41953666	hg19	UCSC Ensembl
Outer	chr6:41953161..41953868	hg19	UCSC Ensembl
Inner	chr6:42061343..42061644	hg18	UCSC Ensembl
Outer	chr6:42061139..42061846	hg18	UCSC Ensembl

Cytoband

6p21.1

Allele length

Assembly	Allele length
hg38	708
hg19	708
hg18	708

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4997696

Samples

NA18507

Known Genes

CCND3

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)

esv2301238

Frequency

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