Variant Details

Variant: esv2130804

Internal ID

7801916

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:142840294..142840381	hg38	UCSC Ensembl
Outer	chr6:142840120..142840567	hg38	UCSC Ensembl
Inner	chr6:143161431..143161518	hg19	UCSC Ensembl
Outer	chr6:143161257..143161704	hg19	UCSC Ensembl
Inner	chr6:143203124..143203211	hg18	UCSC Ensembl
Outer	chr6:143202950..143203397	hg18	UCSC Ensembl

Cytoband

6q24.2

Allele length

Assembly	Allele length
hg38	448
hg19	448
hg18	448

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4945540

Samples

NA18507

Known Genes

HIVEP2

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)

esv2130804

Frequency

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