Variant Details

Variant: esv2306417

Internal ID

7630842

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:33688356..33688425	hg38	UCSC Ensembl
Outer	chr5:33688170..33688592	hg38	UCSC Ensembl
Inner	chr5:33688461..33688530	hg19	UCSC Ensembl
Outer	chr5:33688275..33688697	hg19	UCSC Ensembl
Inner	chr5:33724218..33724287	hg18	UCSC Ensembl
Outer	chr5:33724032..33724454	hg18	UCSC Ensembl

Cytoband

5p13.3

Allele length

Assembly	Allele length
hg38	423
hg19	423
hg18	423

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4517214

Samples

NA18507

Known Genes

ADAMTS12

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)

esv2306417

Frequency

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