Variant Details

Variant: esv2200225

Internal ID

7871336

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:138772788..138772949	hg38	UCSC Ensembl
Outer	chr5:138772686..138773054	hg38	UCSC Ensembl
Inner	chr5:138108477..138108638	hg19	UCSC Ensembl
Outer	chr5:138108375..138108743	hg19	UCSC Ensembl
Inner	chr5:138136376..138136537	hg18	UCSC Ensembl
Outer	chr5:138136274..138136642	hg18	UCSC Ensembl

Cytoband

5q31.2

Allele length

Assembly	Allele length
hg38	369
hg19	369
hg18	369

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4966359

Samples

NA18507

Known Genes

CTNNA1

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)

esv2200225

Frequency

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