Variant Details

Variant: esv2174010

Internal ID

7845121

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr12:53851639..53851911	hg38	UCSC Ensembl
Outer	chr12:53851424..53852116	hg38	UCSC Ensembl
Inner	chr12:54245423..54245695	hg19	UCSC Ensembl
Outer	chr12:54245208..54245900	hg19	UCSC Ensembl
Inner	chr12:52531690..52531962	hg18	UCSC Ensembl
Outer	chr12:52531475..52532167	hg18	UCSC Ensembl

Cytoband

12q13.13

Allele length

Assembly	Allele length
hg38	693
hg19	693
hg18	693

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4959707

Samples

NA18507

Known Genes

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)

esv2174010

Frequency

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