Variant Details

Variant: esv2196763

Internal ID

7521188

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:49861051..49861097	hg38	UCSC Ensembl
Outer	chr15:49860865..49861300	hg38	UCSC Ensembl
Inner	chr15:50153248..50153294	hg19	UCSC Ensembl
Outer	chr15:50153062..50153497	hg19	UCSC Ensembl
Inner	chr15:47940540..47940586	hg18	UCSC Ensembl
Outer	chr15:47940354..47940789	hg18	UCSC Ensembl

Cytoband

15q21.2

Allele length

Assembly	Allele length
hg38	436
hg19	436
hg18	436

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4590106

Samples

NA18507

Known Genes

ATP8B4

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)

esv2196763

Frequency

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