Variant Details

Variant: esv2190143

Internal ID

7514568

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:40994101..40999987	hg38	UCSC Ensembl
Outer	chr17:40994058..41000037	hg38	UCSC Ensembl
Inner	chr17:39150353..39156239	hg19	UCSC Ensembl
Outer	chr17:39150310..39156289	hg19	UCSC Ensembl
Inner	chr17:36403879..36409765	hg18	UCSC Ensembl
Outer	chr17:36403836..36409815	hg18	UCSC Ensembl

Cytoband

17q21.2

Allele length

Assembly	Allele length
hg38	5980
hg19	5980
hg18	5980

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4538575

Samples

NA18507

Known Genes

KRTAP3-2, KRTAP3-3

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)

esv2190143

Frequency

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