Variant Details

Variant: esv2375620

Internal ID

7700045

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:56835315..56835432	hg38	UCSC Ensembl
Outer	chr5:56835182..56835546	hg38	UCSC Ensembl
Inner	chr5:56131142..56131259	hg19	UCSC Ensembl
Outer	chr5:56131009..56131373	hg19	UCSC Ensembl
Inner	chr5:56166899..56167016	hg18	UCSC Ensembl
Outer	chr5:56166766..56167130	hg18	UCSC Ensembl

Cytoband

5q11.2

Allele length

Assembly	Allele length
hg38	365
hg19	365
hg18	365

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4863462

Samples

NA18507

Known Genes

MAP3K1

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)

esv2375620

Frequency

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