Variant Details

Variant: essv4810370

Internal ID

7396002

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr13:41580981..41581302	hg38	UCSC Ensembl
Outer	chr13:41580777..41581519	hg38	UCSC Ensembl
Inner	chr13:42155117..42155438	hg19	UCSC Ensembl
Outer	chr13:42154913..42155655	hg19	UCSC Ensembl
Inner	chr13:41053117..41053438	hg18	UCSC Ensembl
Outer	chr13:41052913..41053655	hg18	UCSC Ensembl

Cytoband

13q14.11

Allele length

Assembly	Allele length
hg38	743
hg19	743
hg18	743

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2023186

Supporting Variants

Samples

NA18507

Known Genes

VWA8

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)

essv4810370

Frequency

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