Variant Details

Variant: esv2113114

Internal ID

7784225

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:60732697..60732719	hg38	UCSC Ensembl
Outer	chr1:60732494..60732920	hg38	UCSC Ensembl
Inner	chr1:61198369..61198391	hg19	UCSC Ensembl
Outer	chr1:61198166..61198592	hg19	UCSC Ensembl
Inner	chr1:60970957..60970979	hg18	UCSC Ensembl
Outer	chr1:60970754..60971180	hg18	UCSC Ensembl

Cytoband

1p31.3

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

essv4727283

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)

esv2113114

Frequency

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