Variant Details

Variant: esv2246828

Internal ID

7571253

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr9:137809846..137809972	hg38	UCSC Ensembl
Outer	chr9:137809660..137810258	hg38	UCSC Ensembl
Inner	chr9:140704298..140704424	hg19	UCSC Ensembl
Outer	chr9:140704112..140704710	hg19	UCSC Ensembl
Inner	chr9:139824119..139824245	hg18	UCSC Ensembl
Outer	chr9:139823933..139824531	hg18	UCSC Ensembl

Cytoband

9q34.3

Allele length

Assembly	Allele length
hg38	599
hg19	599
hg18	599

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4952103

Samples

NA18507

Known Genes

EHMT1

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)

esv2246828

Frequency

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