Variant Details

Variant: essv4840063

Internal ID

7425695

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:169248624..169254655	hg38	UCSC Ensembl
Outer	chr2:169248421..169254842	hg38	UCSC Ensembl
Inner	chr2:170105134..170111165	hg19	UCSC Ensembl
Outer	chr2:170104931..170111352	hg19	UCSC Ensembl
Inner	chr2:169813380..169819411	hg18	UCSC Ensembl
Outer	chr2:169813177..169819598	hg18	UCSC Ensembl

Cytoband

2q31.1

Allele length

Assembly	Allele length
hg38	6422
hg19	6422
hg18	6422

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2179866

Supporting Variants

Samples

NA18507

Known Genes

LRP2

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)

essv4840063

Frequency

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