Variant Details

Variant: esv2405237

Internal ID

8076348

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:69827832..69832742	hg38	UCSC Ensembl
Outer	chr13:69827742..69832853	hg38	UCSC Ensembl
Inner	chr13:70401964..70406874	hg19	UCSC Ensembl
Outer	chr13:70401874..70406985	hg19	UCSC Ensembl
Inner	chr13:69299965..69304875	hg18	UCSC Ensembl
Outer	chr13:69299875..69304986	hg18	UCSC Ensembl

Cytoband

13q21.33

Allele length

Assembly	Allele length
hg38	5112
hg19	5112
hg18	5112

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4567539

Samples

NA18507

Known Genes

KLHL1

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)

esv2405237

Frequency

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