Variant Details

Variant: essv4882649

Internal ID

7121595

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:60409873..60409885	hg38	UCSC Ensembl
Outer	chr11:60409664..60410091	hg38	UCSC Ensembl
Inner	chr11:60177346..60177358	hg19	UCSC Ensembl
Outer	chr11:60177137..60177564	hg19	UCSC Ensembl
Inner	chr11:59933922..59933934	hg18	UCSC Ensembl
Outer	chr11:59933713..59934140	hg18	UCSC Ensembl

Cytoband

11q12.2

Allele length

Assembly	Allele length
hg38	428
hg19	428
hg18	428

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2215205

Supporting Variants

Samples

NA18507

Known Genes

MS4A14

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)

essv4882649

Frequency

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