Variant Details

Variant: essv4937648

Internal ID

7176594

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:47972693..47972742	hg38	UCSC Ensembl
Outer	chr7:47972509..47972911	hg38	UCSC Ensembl
Inner	chr7:48012290..48012339	hg19	UCSC Ensembl
Outer	chr7:48012106..48012508	hg19	UCSC Ensembl
Inner	chr7:47978815..47978864	hg18	UCSC Ensembl
Outer	chr7:47978631..47979033	hg18	UCSC Ensembl

Cytoband

7p12.3

Allele length

Assembly	Allele length
hg38	403
hg19	403
hg18	403

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2387830

Supporting Variants

Samples

NA18507

Known Genes

HUS1

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)

essv4937648

Frequency

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