Variant Details

Variant: essv4557411

Internal ID

7143043

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr18:65866019..65866344	hg38	UCSC Ensembl
Outer	chr18:65865816..65866568	hg38	UCSC Ensembl
Inner	chr18:63533255..63533580	hg19	UCSC Ensembl
Outer	chr18:63533052..63533804	hg19	UCSC Ensembl
Inner	chr18:61684235..61684560	hg18	UCSC Ensembl
Outer	chr18:61684032..61684784	hg18	UCSC Ensembl

Cytoband

18q22.1

Allele length

Assembly	Allele length
hg38	753
hg19	753
hg18	753

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1954972

Supporting Variants

Samples

NA18507

Known Genes

CDH7

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)

essv4557411

Frequency

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