Variant Details

Variant: essv4888240

Internal ID

7127186

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:81961832..81961837	hg38	UCSC Ensembl
Outer	chr7:81961615..81962050	hg38	UCSC Ensembl
Inner	chr7:81591148..81591153	hg19	UCSC Ensembl
Outer	chr7:81590931..81591366	hg19	UCSC Ensembl
Inner	chr7:81429084..81429089	hg18	UCSC Ensembl
Outer	chr7:81428867..81429302	hg18	UCSC Ensembl

Cytoband

7q21.11

Allele length

Assembly	Allele length
hg38	436
hg19	436
hg18	436

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2214231

Supporting Variants

Samples

NA18507

Known Genes

CACNA2D1

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)

essv4888240

Frequency

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