Variant Details

Variant: esv2235516

Internal ID

7906628

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:128669058..128669475	hg38	UCSC Ensembl
Outer	chr7:128668974..128669555	hg38	UCSC Ensembl
Inner	chr7:128309112..128309529	hg19	UCSC Ensembl
Outer	chr7:128309028..128309609	hg19	UCSC Ensembl
Inner	chr7:128096348..128096765	hg18	UCSC Ensembl
Outer	chr7:128096264..128096845	hg18	UCSC Ensembl

Cytoband

7q32.1

Allele length

Assembly	Allele length
hg38	582
hg19	582
hg18	582

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv39e194

Supporting Variants

essv4943249

Samples

NA18507

Known Genes

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)

esv2235516

Frequency

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