Variant Details

Variant: esv2259693

Internal ID

7584118

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:149762469..149763175	hg38	UCSC Ensembl
Outer	chr6:149762343..149763237	hg38	UCSC Ensembl
Inner	chr6:150083605..150084311	hg19	UCSC Ensembl
Outer	chr6:150083479..150084373	hg19	UCSC Ensembl
Inner	chr6:150125298..150126004	hg18	UCSC Ensembl
Outer	chr6:150125172..150126066	hg18	UCSC Ensembl

Cytoband

6q25.1

Allele length

Assembly	Allele length
hg38	895
hg19	895
hg18	895

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4572870

Samples

NA18507

Known Genes

PCMT1

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)

esv2259693

Frequency

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