Variant Details

Variant: esv2299103

Internal ID

7623528

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr3:178832344..178833082	hg38	UCSC Ensembl
Outer	chr3:178832147..178833271	hg38	UCSC Ensembl
Inner	chr3:178550132..178550870	hg19	UCSC Ensembl
Outer	chr3:178549935..178551059	hg19	UCSC Ensembl
Inner	chr3:180032826..180033564	hg18	UCSC Ensembl
Outer	chr3:180032629..180033753	hg18	UCSC Ensembl

Cytoband

3q26.32

Allele length

Assembly	Allele length
hg38	1125
hg19	1125
hg18	1125

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4747455

Samples

NA18507

Known Genes

KCNMB2

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)

esv2299103

Frequency

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