Variant Details

Variant: esv2136642

Internal ID

7461067

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:180323871..180324180	hg38	UCSC Ensembl
Outer	chr1:180323688..180324377	hg38	UCSC Ensembl
Inner	chr1:180293006..180293315	hg19	UCSC Ensembl
Outer	chr1:180292823..180293512	hg19	UCSC Ensembl
Inner	chr1:178559629..178559938	hg18	UCSC Ensembl
Outer	chr1:178559446..178560135	hg18	UCSC Ensembl

Cytoband

1q25.2

Allele length

Assembly	Allele length
hg38	690
hg19	690
hg18	690

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4689488

Samples

NA18507

Known Genes

ACBD6

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)

esv2136642

Frequency

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