Variant Details

Variant: esv2129733

Internal ID

7454158

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:58620669..58620970	hg38	UCSC Ensembl
Outer	chr15:58620476..58621181	hg38	UCSC Ensembl
Inner	chr15:58912868..58913169	hg19	UCSC Ensembl
Outer	chr15:58912675..58913380	hg19	UCSC Ensembl
Inner	chr15:56700160..56700461	hg18	UCSC Ensembl
Outer	chr15:56699967..56700672	hg18	UCSC Ensembl

Cytoband

15q21.3

Allele length

Assembly	Allele length
hg38	706
hg19	706
hg18	706

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4894989

Samples

NA18507

Known Genes

ADAM10

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)

esv2129733

Frequency

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