Variant Details

Variant: essv4522858

Internal ID

7108490

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:133833420..133833461	hg38	UCSC Ensembl
Outer	chr6:133833223..133833750	hg38	UCSC Ensembl
Inner	chr6:134154558..134154599	hg19	UCSC Ensembl
Outer	chr6:134154361..134154888	hg19	UCSC Ensembl
Inner	chr6:134196251..134196292	hg18	UCSC Ensembl
Outer	chr6:134196054..134196581	hg18	UCSC Ensembl

Cytoband

6q23.2

Allele length

Assembly	Allele length
hg38	528
hg19	528
hg18	528

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2011634

Supporting Variants

Samples

NA18507

Known Genes

MGC34034

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)

essv4522858

Frequency

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