Variant Details

Variant: essv4548993

Internal ID

7134625

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:47979854..47979987	hg38	UCSC Ensembl
Outer	chr2:47979705..47980131	hg38	UCSC Ensembl
Inner	chr2:48206993..48207126	hg19	UCSC Ensembl
Outer	chr2:48206844..48207270	hg19	UCSC Ensembl
Inner	chr2:48060497..48060630	hg18	UCSC Ensembl
Outer	chr2:48060348..48060774	hg18	UCSC Ensembl

Cytoband

2p16.3

Allele length

Assembly	Allele length
hg38	427
hg19	427
hg18	427

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1979585

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)

essv4548993

Frequency

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