Variant Details

Variant: essv4987680

Internal ID

7226626

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:2876492..2876750	hg38	UCSC Ensembl
Outer	chr18:2876420..2876828	hg38	UCSC Ensembl
Inner	chr18:2876490..2876748	hg19	UCSC Ensembl
Outer	chr18:2876418..2876826	hg19	UCSC Ensembl
Inner	chr18:2866490..2866748	hg18	UCSC Ensembl
Outer	chr18:2866418..2866826	hg18	UCSC Ensembl

Cytoband

18p11.32

Allele length

Assembly	Allele length
hg38	409
hg19	409
hg18	409

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2178988

Supporting Variants

Samples

NA18507

Known Genes

EMILIN2

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)

essv4987680

Frequency

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