Variant Details

Variant: essv4923542

Internal ID

7162488

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:48554717..48557729	hg38	UCSC Ensembl
Outer	chr2:48554511..48557934	hg38	UCSC Ensembl
Inner	chr2:48781856..48784868	hg19	UCSC Ensembl
Outer	chr2:48781650..48785073	hg19	UCSC Ensembl
Inner	chr2:48635360..48638372	hg18	UCSC Ensembl
Outer	chr2:48635154..48638577	hg18	UCSC Ensembl

Cytoband

2p16.3

Allele length

Assembly	Allele length
hg38	3424
hg19	3424
hg18	3424

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2354047

Supporting Variants

Samples

NA18507

Known Genes

STON1, STON1-GTF2A1L

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)

essv4923542

Frequency

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