Variant Details

Variant: esv2249804

Internal ID

7574229

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:86906414..86906758	hg38	UCSC Ensembl
Outer	chr10:86906230..86906927	hg38	UCSC Ensembl
Inner	chr10:88666171..88666515	hg19	UCSC Ensembl
Outer	chr10:88665987..88666684	hg19	UCSC Ensembl
Inner	chr10:88656151..88656495	hg18	UCSC Ensembl
Outer	chr10:88655967..88656664	hg18	UCSC Ensembl

Cytoband

10q23.2

Allele length

Assembly	Allele length
hg38	698
hg19	698
hg18	698

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4839661

Samples

NA18507

Known Genes

BMPR1A

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)

esv2249804

Frequency

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