Variant Details

Variant: essv4894374

Internal ID

7480006

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:69561632..69562000	hg38	UCSC Ensembl
Outer	chr1:69561475..69562177	hg38	UCSC Ensembl
Inner	chr1:70027315..70027683	hg19	UCSC Ensembl
Outer	chr1:70027158..70027860	hg19	UCSC Ensembl
Inner	chr1:69799903..69800271	hg18	UCSC Ensembl
Outer	chr1:69799746..69800448	hg18	UCSC Ensembl

Cytoband

1p31.1

Allele length

Assembly	Allele length
hg38	703
hg19	703
hg18	703

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2329340

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)

essv4894374

Frequency

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