Variant Details

Variant: esv2270289

Internal ID

7594714

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:37958916..37959220	hg38	UCSC Ensembl
Outer	chr7:37958715..37959416	hg38	UCSC Ensembl
Inner	chr7:37998518..37998822	hg19	UCSC Ensembl
Outer	chr7:37998317..37999018	hg19	UCSC Ensembl
Inner	chr7:37965043..37965347	hg18	UCSC Ensembl
Outer	chr7:37964842..37965543	hg18	UCSC Ensembl

Cytoband

7p14.1

Allele length

Assembly	Allele length
hg38	702
hg19	702
hg18	702

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4903281

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)

esv2270289

Frequency

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