Variant Details

Variant: esv2072081

Internal ID

7743192

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:3031174..3031366	hg38	UCSC Ensembl
Outer	chr17:3031098..3031434	hg38	UCSC Ensembl
Inner	chr17:2934468..2934660	hg19	UCSC Ensembl
Outer	chr17:2934392..2934728	hg19	UCSC Ensembl
Inner	chr17:2881218..2881410	hg18	UCSC Ensembl
Outer	chr17:2881142..2881478	hg18	UCSC Ensembl

Cytoband

17p13.3

Allele length

Assembly	Allele length
hg38	337
hg19	337
hg18	337

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4700026

Samples

NA18507

Known Genes

RAP1GAP2

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)

esv2072081

Frequency

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