Variant Details

Variant: esv2384996

Internal ID

7709421

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:8668914..8669075	hg38	UCSC Ensembl
Outer	chr1:8668770..8669211	hg38	UCSC Ensembl
Inner	chr1:8728973..8729134	hg19	UCSC Ensembl
Outer	chr1:8728829..8729270	hg19	UCSC Ensembl
Inner	chr1:8651560..8651721	hg18	UCSC Ensembl
Outer	chr1:8651416..8651857	hg18	UCSC Ensembl

Cytoband

1p36.23

Allele length

Assembly	Allele length
hg38	442
hg19	442
hg18	442

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4771378

Samples

NA18507

Known Genes

RERE

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)

esv2384996

Frequency

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