Variant Details

Variant: essv4527422

Internal ID

6766368

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:26466035..26466101	hg38	UCSC Ensembl
Outer	chr18:26465846..26466296	hg38	UCSC Ensembl
Inner	chr18:24045999..24046065	hg19	UCSC Ensembl
Outer	chr18:24045810..24046260	hg19	UCSC Ensembl
Inner	chr18:22299997..22300063	hg18	UCSC Ensembl
Outer	chr18:22299808..22300258	hg18	UCSC Ensembl

Cytoband

18q11.2

Allele length

Assembly	Allele length
hg38	451
hg19	451
hg18	451

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2119422

Supporting Variants

Samples

NA18507

Known Genes

KCTD1

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)

essv4527422

Frequency

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