Variant Details

Variant: esv2157132

Internal ID

7481557

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:89579753..89580246	hg38	UCSC Ensembl
Outer	chr16:89579641..89580371	hg38	UCSC Ensembl
Inner	chr16:89646161..89646654	hg19	UCSC Ensembl
Outer	chr16:89646049..89646779	hg19	UCSC Ensembl
Inner	chr16:88173662..88174155	hg18	UCSC Ensembl
Outer	chr16:88173550..88174280	hg18	UCSC Ensembl

Cytoband

16q24.3

Allele length

Assembly	Allele length
hg38	731
hg19	731
hg18	731

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4952442

Samples

NA18507

Known Genes

CPNE7

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)

esv2157132

Frequency

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