Variant Details

Variant: essv4560650

Internal ID

7146282

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:203918518..203920774	hg38	UCSC Ensembl
Outer	chr1:203918388..203920899	hg38	UCSC Ensembl
Inner	chr1:203887646..203889902	hg19	UCSC Ensembl
Outer	chr1:203887516..203890027	hg19	UCSC Ensembl
Inner	chr1:202154269..202156525	hg18	UCSC Ensembl
Outer	chr1:202154139..202156650	hg18	UCSC Ensembl

Cytoband

1q32.1

Allele length

Assembly	Allele length
hg38	2512
hg19	2512
hg18	2512

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2367235

Supporting Variants

Samples

NA18507

Known Genes

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)

essv4560650

Frequency

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