Variant Details

Variant: essv4868458

Internal ID

7107404

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:111414931..111414964	hg38	UCSC Ensembl
Outer	chr1:111414728..111415163	hg38	UCSC Ensembl
Inner	chr1:111957553..111957586	hg19	UCSC Ensembl
Outer	chr1:111957350..111957785	hg19	UCSC Ensembl
Inner	chr1:111759076..111759109	hg18	UCSC Ensembl
Outer	chr1:111758873..111759308	hg18	UCSC Ensembl

Cytoband

1p13.2

Allele length

Assembly	Allele length
hg38	436
hg19	436
hg18	436

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2100138

Supporting Variants

Samples

NA18507

Known Genes

OVGP1

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)

essv4868458

Frequency

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