Variant Details

Variant: esv2131076

Internal ID

7455502

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:71680704..71680863	hg38	UCSC Ensembl
Outer	chr7:71680621..71680970	hg38	UCSC Ensembl
Inner	chr7:71145689..71145848	hg19	UCSC Ensembl
Outer	chr7:71145606..71145955	hg19	UCSC Ensembl
Inner	chr7:70783625..70783784	hg18	UCSC Ensembl
Outer	chr7:70783542..70783891	hg18	UCSC Ensembl

Cytoband

7q11.22

Allele length

Assembly	Allele length
hg38	350
hg19	350
hg18	350

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4744478

Samples

NA18507

Known Genes

WBSCR17

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)

esv2131076

Frequency

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