Variant Details

Variant: essv4943981

Internal ID

7529613

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:41635566..41635643	hg38	UCSC Ensembl
Outer	chr1:41635376..41635828	hg38	UCSC Ensembl
Inner	chr1:42101237..42101314	hg19	UCSC Ensembl
Outer	chr1:42101047..42101499	hg19	UCSC Ensembl
Inner	chr1:41873824..41873901	hg18	UCSC Ensembl
Outer	chr1:41873634..41874086	hg18	UCSC Ensembl

Cytoband

1p34.2

Allele length

Assembly	Allele length
hg38	453
hg19	453
hg18	453

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2174819

Supporting Variants

Samples

NA18507

Known Genes

HIVEP3

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)

essv4943981

Frequency

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