Variant Details

Variant: essv4885166

Internal ID

7124112

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:135862282..135862339	hg38	UCSC Ensembl
Outer	chr2:135862082..135862544	hg38	UCSC Ensembl
Inner	chr2:136619852..136619909	hg19	UCSC Ensembl
Outer	chr2:136619652..136620114	hg19	UCSC Ensembl
Inner	chr2:136336322..136336379	hg18	UCSC Ensembl
Outer	chr2:136336122..136336584	hg18	UCSC Ensembl

Cytoband

2q21.3

Allele length

Assembly	Allele length
hg38	463
hg19	463
hg18	463

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2032582

Supporting Variants

Samples

NA18507

Known Genes

MCM6

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)

essv4885166

Frequency

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