Variant Details

Variant: esv1991692

Internal ID

7316117

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr10:48709130..48709430	hg38	UCSC Ensembl
Outer	chr10:48708924..48709647	hg38	UCSC Ensembl
Inner	chr10:49917175..49917475	hg19	UCSC Ensembl
Outer	chr10:49916969..49917692	hg19	UCSC Ensembl
Inner	chr10:49587181..49587481	hg18	UCSC Ensembl
Outer	chr10:49586975..49587698	hg18	UCSC Ensembl

Cytoband

10q11.22

Allele length

Assembly	Allele length
hg38	724
hg19	724
hg18	724

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4671328

Samples

NA18507

Known Genes

WDFY4

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)

esv1991692

Frequency

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