Variant Details

Variant: essv4786106

Internal ID

7025052

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:54565055..54565102	hg38	UCSC Ensembl
Outer	chr7:54564879..54565273	hg38	UCSC Ensembl
Inner	chr7:54632748..54632795	hg19	UCSC Ensembl
Outer	chr7:54632572..54632966	hg19	UCSC Ensembl
Inner	chr7:54600242..54600289	hg18	UCSC Ensembl
Outer	chr7:54600066..54600460	hg18	UCSC Ensembl

Cytoband

7p11.2

Allele length

Assembly	Allele length
hg38	395
hg19	395
hg18	395

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2272226

Supporting Variants

Samples

NA18507

Known Genes

LOC285878, VSTM2A

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)

essv4786106

Frequency

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