Variant Details

Variant: esv2273943

Internal ID

7945054

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:41084771..41084969	hg38	UCSC Ensembl
Outer	chr5:41084578..41085157	hg38	UCSC Ensembl
Inner	chr5:41084873..41085071	hg19	UCSC Ensembl
Outer	chr5:41084680..41085259	hg19	UCSC Ensembl
Inner	chr5:41120630..41120828	hg18	UCSC Ensembl
Outer	chr5:41120437..41121016	hg18	UCSC Ensembl

Cytoband

5p13.1

Allele length

Assembly	Allele length
hg38	580
hg19	580
hg18	580

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4627235

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)

esv2273943

Frequency

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