Variant Details

Variant: essv4606199

Internal ID

7191831

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:92972568..92972869	hg38	UCSC Ensembl
Outer	chr15:92972371..92973070	hg38	UCSC Ensembl
Inner	chr15:93515798..93516099	hg19	UCSC Ensembl
Outer	chr15:93515601..93516300	hg19	UCSC Ensembl
Inner	chr15:91316802..91317103	hg18	UCSC Ensembl
Outer	chr15:91316605..91317304	hg18	UCSC Ensembl

Cytoband

15q26.1

Allele length

Assembly	Allele length
hg38	700
hg19	700
hg18	700

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2229244

Supporting Variants

Samples

NA18507

Known Genes

CHD2

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)

essv4606199

Frequency

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