Variant Details

Variant: esv2051843

Internal ID

7376268

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:16446978..16446987	hg38	UCSC Ensembl
Outer	chr11:16446738..16447217	hg38	UCSC Ensembl
Inner	chr11:16468525..16468534	hg19	UCSC Ensembl
Outer	chr11:16468285..16468764	hg19	UCSC Ensembl
Inner	chr11:16425101..16425110	hg18	UCSC Ensembl
Outer	chr11:16424861..16425340	hg18	UCSC Ensembl

Cytoband

11p15.1

Allele length

Assembly	Allele length
hg38	480
hg19	480
hg18	480

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4697207

Samples

NA18507

Known Genes

SOX6

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)

esv2051843

Frequency

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