Variant Details

Variant: essv4981740

Internal ID

7567372

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:66268941..66269996	hg38	UCSC Ensembl
Outer	chr17:66268733..66270191	hg38	UCSC Ensembl
Inner	chr17:64265059..64266114	hg19	UCSC Ensembl
Outer	chr17:64264851..64266309	hg19	UCSC Ensembl
Inner	chr17:61695521..61696576	hg18	UCSC Ensembl
Outer	chr17:61695313..61696771	hg18	UCSC Ensembl

Cytoband

17q24.2

Allele length

Assembly	Allele length
hg38	1459
hg19	1459
hg18	1459

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2035460

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4981740

Frequency

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