Variant Details

Variant: esv2346287

Internal ID

8017398

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:15465105..15465295	hg38	UCSC Ensembl
Outer	chr17:15464898..15465512	hg38	UCSC Ensembl
Inner	chr17:15368419..15368609	hg19	UCSC Ensembl
Outer	chr17:15368212..15368826	hg19	UCSC Ensembl
Inner	chr17:15309144..15309334	hg18	UCSC Ensembl
Outer	chr17:15308937..15309551	hg18	UCSC Ensembl

Cytoband

17p12

Allele length

Assembly	Allele length
hg38	615
hg19	615
hg18	615

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4558905

Samples

NA18507

Known Genes

CDRT4, TVP23C-CDRT4

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)

esv2346287

Frequency

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