Variant Details

Variant: essv4526541

Internal ID

6765487

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:104774092..104774477	hg38	UCSC Ensembl
Outer	chr6:104773987..104774584	hg38	UCSC Ensembl
Inner	chr6:105221967..105222352	hg19	UCSC Ensembl
Outer	chr6:105221862..105222459	hg19	UCSC Ensembl
Inner	chr6:105328660..105329045	hg18	UCSC Ensembl
Outer	chr6:105328555..105329152	hg18	UCSC Ensembl

Cytoband

6q16.3

Allele length

Assembly	Allele length
hg38	598
hg19	598
hg18	598

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1963512

Supporting Variants

Samples

NA18507

Known Genes

HACE1

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)

essv4526541

Frequency

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