Variant Details

Variant: essv4687897

Internal ID

7273529

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:129143625..129145391	hg38	UCSC Ensembl
Outer	chr11:129143482..129145545	hg38	UCSC Ensembl
Inner	chr11:129013520..129015286	hg19	UCSC Ensembl
Outer	chr11:129013377..129015440	hg19	UCSC Ensembl
Inner	chr11:128518730..128520496	hg18	UCSC Ensembl
Outer	chr11:128518587..128520650	hg18	UCSC Ensembl

Cytoband

11q24.3

Allele length

Assembly	Allele length
hg38	2064
hg19	2064
hg18	2064

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2287161

Supporting Variants

Samples

NA18507

Known Genes

ARHGAP32

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)

essv4687897

Frequency

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