Variant Details

Variant: esv2268423

Internal ID

7592848

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:39496119..39496365	hg38	UCSC Ensembl
Outer	chr1:39496063..39496419	hg38	UCSC Ensembl
Inner	chr1:39961791..39962037	hg19	UCSC Ensembl
Outer	chr1:39961735..39962091	hg19	UCSC Ensembl
Inner	chr1:39734378..39734624	hg18	UCSC Ensembl
Outer	chr1:39734322..39734678	hg18	UCSC Ensembl

Cytoband

1p34.2

Allele length

Assembly	Allele length
hg38	357
hg19	357
hg18	357

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4733529

Samples

NA18507

Known Genes

BMP8A

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)

esv2268423

Frequency

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