Variant Details

Variant: esv2112361

Internal ID

7436786

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:8481094..8481208	hg38	UCSC Ensembl
Outer	chr17:8480964..8481358	hg38	UCSC Ensembl
Inner	chr17:8384412..8384526	hg19	UCSC Ensembl
Outer	chr17:8384282..8384676	hg19	UCSC Ensembl
Inner	chr17:8325137..8325251	hg18	UCSC Ensembl
Outer	chr17:8325007..8325401	hg18	UCSC Ensembl

Cytoband

17p13.1

Allele length

Assembly	Allele length
hg38	395
hg19	395
hg18	395

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4669979

Samples

NA18507

Known Genes

MYH10

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)

esv2112361

Frequency

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