Variant Details

Variant: esv2158529

Internal ID

7829640

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:109194456..109194590	hg38	UCSC Ensembl
Outer	chr12:109194312..109194757	hg38	UCSC Ensembl
Inner	chr12:109632261..109632395	hg19	UCSC Ensembl
Outer	chr12:109632117..109632562	hg19	UCSC Ensembl
Inner	chr12:108116644..108116778	hg18	UCSC Ensembl
Outer	chr12:108116500..108116945	hg18	UCSC Ensembl

Cytoband

12q24.11

Allele length

Assembly	Allele length
hg38	446
hg19	446
hg18	446

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4709940

Samples

NA18507

Known Genes

ACACB

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)

esv2158529

Frequency

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