Variant Details

Variant: essv4555606

Internal ID

6794552

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:83637252..83643311	hg38	UCSC Ensembl
Outer	chr16:83637061..83643517	hg38	UCSC Ensembl
Inner	chr16:83670857..83676916	hg19	UCSC Ensembl
Outer	chr16:83670666..83677122	hg19	UCSC Ensembl
Inner	chr16:82228358..82234417	hg18	UCSC Ensembl
Outer	chr16:82228167..82234623	hg18	UCSC Ensembl

Cytoband

16q23.3

Allele length

Assembly	Allele length
hg38	6457
hg19	6457
hg18	6457

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2112702

Supporting Variants

Samples

NA18507

Known Genes

CDH13

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)

essv4555606

Frequency

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