Variant Details

Variant: essv4908043

Internal ID

7493675

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:84143523..84143559	hg38	UCSC Ensembl
Outer	chr7:84143339..84143758	hg38	UCSC Ensembl
Inner	chr7:83772839..83772875	hg19	UCSC Ensembl
Outer	chr7:83772655..83773074	hg19	UCSC Ensembl
Inner	chr7:83610775..83610811	hg18	UCSC Ensembl
Outer	chr7:83610591..83611010	hg18	UCSC Ensembl

Cytoband

7q21.11

Allele length

Assembly	Allele length
hg38	420
hg19	420
hg18	420

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2086328

Supporting Variants

Samples

NA18507

Known Genes

SEMA3A

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)

essv4908043

Frequency

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