Variant Details

Variant: esv2235195

Internal ID

7906307

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:56717692..56717956	hg38	UCSC Ensembl
Outer	chr12:56717636..56718062	hg38	UCSC Ensembl
Inner	chr12:57111476..57111740	hg19	UCSC Ensembl
Outer	chr12:57111420..57111846	hg19	UCSC Ensembl
Inner	chr12:55397743..55398007	hg18	UCSC Ensembl
Outer	chr12:55397687..55398113	hg18	UCSC Ensembl

Cytoband

12q13.3

Allele length

Assembly	Allele length
hg38	427
hg19	427
hg18	427

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4599989

Samples

NA18507

Known Genes

NACA

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)

esv2235195

Frequency

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