Variant Details

Variant: essv4681334

Internal ID

6920280

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:10462422..10462671	hg38	UCSC Ensembl
Outer	chr18:10462250..10462824	hg38	UCSC Ensembl
Inner	chr18:10462419..10462668	hg19	UCSC Ensembl
Outer	chr18:10462247..10462821	hg19	UCSC Ensembl
Inner	chr18:10452419..10452668	hg18	UCSC Ensembl
Outer	chr18:10452247..10452821	hg18	UCSC Ensembl

Cytoband

18p11.22

Allele length

Assembly	Allele length
hg38	575
hg19	575
hg18	575

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1968192

Supporting Variants

Samples

NA18507

Known Genes

APCDD1

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)

essv4681334

Frequency

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