Variant Details

Variant: essv4968387

Internal ID

7207333

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:5043637..5043945	hg38	UCSC Ensembl
Outer	chr19:5043525..5044105	hg38	UCSC Ensembl
Inner	chr19:5043648..5043956	hg19	UCSC Ensembl
Outer	chr19:5043536..5044116	hg19	UCSC Ensembl
Inner	chr19:4994648..4994956	hg18	UCSC Ensembl
Outer	chr19:4994536..4995116	hg18	UCSC Ensembl

Cytoband

19p13.3

Allele length

Assembly	Allele length
hg38	581
hg19	581
hg18	581

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2105827

Supporting Variants

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)

essv4968387

Frequency

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