Variant Details

Variant: essv4677519

Internal ID

7263151

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:103452332..103456137	hg38	UCSC Ensembl
Outer	chr7:103452284..103456194	hg38	UCSC Ensembl
Inner	chr7:103092779..103096584	hg19	UCSC Ensembl
Outer	chr7:103092731..103096641	hg19	UCSC Ensembl
Inner	chr7:102880015..102883820	hg18	UCSC Ensembl
Outer	chr7:102879967..102883877	hg18	UCSC Ensembl

Cytoband

7q22.1

Allele length

Assembly	Allele length
hg38	3911
hg19	3911
hg18	3911

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2117969

Supporting Variants

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)

essv4677519

Frequency

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