Variant Details

Variant: esv2418311

Internal ID

8089422

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:140458956..140459017	hg38	UCSC Ensembl
Outer	chr5:140458768..140459183	hg38	UCSC Ensembl
Inner	chr5:139838541..139838602	hg19	UCSC Ensembl
Outer	chr5:139838353..139838768	hg19	UCSC Ensembl
Inner	chr5:139818725..139818786	hg18	UCSC Ensembl
Outer	chr5:139818537..139818952	hg18	UCSC Ensembl

Cytoband

5q31.3

Allele length

Assembly	Allele length
hg38	416
hg19	416
hg18	416

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4728765

Samples

NA18507

Known Genes

ANKHD1, ANKHD1-EIF4EBP3

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)

esv2418311

Frequency

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