Variant Details

Variant: essv4956011

Internal ID

7541643

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:211195951..211197147	hg38	UCSC Ensembl
Outer	chr1:211195783..211197333	hg38	UCSC Ensembl
Inner	chr1:211369293..211370489	hg19	UCSC Ensembl
Outer	chr1:211369125..211370675	hg19	UCSC Ensembl
Inner	chr1:209435916..209437112	hg18	UCSC Ensembl
Outer	chr1:209435748..209437298	hg18	UCSC Ensembl

Cytoband

1q32.2

Allele length

Assembly	Allele length
hg38	1551
hg19	1551
hg18	1551

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2052725

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4956011

Frequency

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