Variant Details

Variant: esv2205471

Internal ID

7876582

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:155619136..155619169	hg38	UCSC Ensembl
Outer	chr3:155618948..155619371	hg38	UCSC Ensembl
Inner	chr3:155336925..155336958	hg19	UCSC Ensembl
Outer	chr3:155336737..155337160	hg19	UCSC Ensembl
Inner	chr3:156819619..156819652	hg18	UCSC Ensembl
Outer	chr3:156819431..156819854	hg18	UCSC Ensembl

Cytoband

3q25.31

Allele length

Assembly	Allele length
hg38	424
hg19	424
hg18	424

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4783537

Samples

NA18507

Known Genes

PLCH1

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)

esv2205471

Frequency

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