Variant Details

Variant: essv4618222

Internal ID

7203854

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:52928185..52931966	hg38	UCSC Ensembl
Outer	chr6:52928075..52932079	hg38	UCSC Ensembl
Inner	chr6:52792983..52796764	hg19	UCSC Ensembl
Outer	chr6:52792873..52796877	hg19	UCSC Ensembl
Inner	chr6:52900942..52904723	hg18	UCSC Ensembl
Outer	chr6:52900832..52904836	hg18	UCSC Ensembl

Cytoband

6p12.1

Allele length

Assembly	Allele length
hg38	4005
hg19	4005
hg18	4005

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2147982

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4618222

Frequency

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