Variant Details

Variant: essv4744132

Internal ID

7329764

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:241197256..241197552	hg38	UCSC Ensembl
Outer	chr1:241197045..241197754	hg38	UCSC Ensembl
Inner	chr1:241360556..241360852	hg19	UCSC Ensembl
Outer	chr1:241360345..241361054	hg19	UCSC Ensembl
Inner	chr1:239427179..239427475	hg18	UCSC Ensembl
Outer	chr1:239426968..239427677	hg18	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	710
hg19	710
hg18	710

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2194065

Supporting Variants

Samples

NA18507

Known Genes

RGS7

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)

essv4744132

Frequency

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