Variant Details

Variant: essv4918737

Internal ID

7157683

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:139416057..139416087	hg38	UCSC Ensembl
Outer	chr7:139415853..139416278	hg38	UCSC Ensembl
Inner	chr7:139100803..139100833	hg19	UCSC Ensembl
Outer	chr7:139100599..139101024	hg19	UCSC Ensembl
Inner	chr7:138751343..138751373	hg18	UCSC Ensembl
Outer	chr7:138751139..138751564	hg18	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	426
hg19	426
hg18	426

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2371727

Supporting Variants

Samples

NA18507

Known Genes

C7orf55-LUC7L2, LUC7L2

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)

essv4918737

Frequency

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