Variant Details

Variant: esv2337248

Internal ID

8008359

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:17438060..17441738	hg38	UCSC Ensembl
Outer	chr6:17437955..17441848	hg38	UCSC Ensembl
Inner	chr6:17438291..17441969	hg19	UCSC Ensembl
Outer	chr6:17438186..17442079	hg19	UCSC Ensembl
Inner	chr6:17546270..17549948	hg18	UCSC Ensembl
Outer	chr6:17546165..17550058	hg18	UCSC Ensembl

Cytoband

6p22.3

Allele length

Assembly	Allele length
hg38	3894
hg19	3894
hg18	3894

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4546885

Samples

NA18507

Known Genes

CAP2

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)

esv2337248

Frequency

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