Variant Details

Variant: essv4944644

Internal ID

7530276

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:122816757..122822668	hg38	UCSC Ensembl
Outer	chr7:122816682..122822741	hg38	UCSC Ensembl
Inner	chr7:122456811..122462722	hg19	UCSC Ensembl
Outer	chr7:122456736..122462795	hg19	UCSC Ensembl
Inner	chr7:122244047..122249958	hg18	UCSC Ensembl
Outer	chr7:122243972..122250031	hg18	UCSC Ensembl

Cytoband

7q31.32

Allele length

Assembly	Allele length
hg38	6060
hg19	6060
hg18	6060

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2069189

Supporting Variants

Samples

NA18507

Known Genes

CADPS2

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)

essv4944644

Frequency

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