Variant Details

Variant: esv2165265

Internal ID

7836376

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:5603215..5603483	hg38	UCSC Ensembl
Outer	chr1:5603163..5603530	hg38	UCSC Ensembl
Inner	chr1:5663275..5663543	hg19	UCSC Ensembl
Outer	chr1:5663223..5663590	hg19	UCSC Ensembl
Inner	chr1:5585862..5586130	hg18	UCSC Ensembl
Outer	chr1:5585810..5586177	hg18	UCSC Ensembl

Cytoband

1p36.31

Allele length

Assembly	Allele length
hg38	368
hg19	368
hg18	368

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4655011

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)

esv2165265

Frequency

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