Variant Details

Variant: esv2013056

Internal ID

7337482

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:5075934..5076630	hg38	UCSC Ensembl
Outer	chr19:5075865..5076682	hg38	UCSC Ensembl
Inner	chr19:5075945..5076641	hg19	UCSC Ensembl
Outer	chr19:5075876..5076693	hg19	UCSC Ensembl
Inner	chr19:5026945..5027641	hg18	UCSC Ensembl
Outer	chr19:5026876..5027693	hg18	UCSC Ensembl

Cytoband

19p13.3

Allele length

Assembly	Allele length
hg38	818
hg19	818
hg18	818

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4722478

Samples

NA18507

Known Genes

KDM4B

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)

esv2013056

Frequency

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