Variant Details

Variant: essv4895416

Internal ID

7481048

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:120175839..120179975	hg38	UCSC Ensembl
Outer	chr1:120175834..120179977	hg38	UCSC Ensembl
Inner	chr1:145092951..145097089	hg19	UCSC Ensembl
Outer	chr1:145092773..145097276	hg19	UCSC Ensembl
Inner	chr1:143804308..143808446	hg18	UCSC Ensembl
Outer	chr1:143804130..143808633	hg18	UCSC Ensembl

Cytoband

1q21.1

Allele length

Assembly	Allele length
hg38	4144
hg19	4504
hg18	4504

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2229660

Supporting Variants

Samples

NA18507

Known Genes

LOC100288142, NBPF12, NBPF9, SEC22B

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)

essv4895416

Frequency

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