Variant Details

Variant: esv2199986

Internal ID

7871097

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:77982216..77982398	hg38	UCSC Ensembl
Outer	chr12:77982052..77982581	hg38	UCSC Ensembl
Inner	chr12:78375996..78376178	hg19	UCSC Ensembl
Outer	chr12:78375832..78376361	hg19	UCSC Ensembl
Inner	chr12:76900127..76900309	hg18	UCSC Ensembl
Outer	chr12:76899963..76900492	hg18	UCSC Ensembl

Cytoband

12q21.2

Allele length

Assembly	Allele length
hg38	530
hg19	530
hg18	530

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4669139

Samples

NA18507

Known Genes

NAV3

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)

esv2199986

Frequency

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