Variant Details

Variant: essv4963224

Internal ID

7202170

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr8:141994677..141994921	hg38	UCSC Ensembl
Outer	chr8:141994496..141995092	hg38	UCSC Ensembl
Inner	chr8:143076038..143076282	hg19	UCSC Ensembl
Outer	chr8:143075857..143076453	hg19	UCSC Ensembl
Inner	chr8:143073945..143074189	hg18	UCSC Ensembl
Outer	chr8:143073764..143074360	hg18	UCSC Ensembl

Cytoband

8q24.3

Allele length

Assembly	Allele length
hg38	597
hg19	597
hg18	597

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2141448

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)

essv4963224

Frequency

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