Variant Details

Variant: esv1969466

Internal ID

7293891

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:61340329..61340655	hg38	UCSC Ensembl
Outer	chr11:61340148..61340842	hg38	UCSC Ensembl
Inner	chr11:61107801..61108127	hg19	UCSC Ensembl
Outer	chr11:61107620..61108314	hg19	UCSC Ensembl
Inner	chr11:60864377..60864703	hg18	UCSC Ensembl
Outer	chr11:60864196..60864890	hg18	UCSC Ensembl

Cytoband

11q12.2

Allele length

Assembly	Allele length
hg38	695
hg19	695
hg18	695

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4506988

Samples

NA18507

Known Genes

DAK

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)

esv1969466

Frequency

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