Variant Details

Variant: essv4848070

Internal ID

7433702

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr17:63747962..63748122	hg38	UCSC Ensembl
Outer	chr17:63747802..63748255	hg38	UCSC Ensembl
Inner	chr17:61825322..61825482	hg19	UCSC Ensembl
Outer	chr17:61825162..61825615	hg19	UCSC Ensembl
Inner	chr17:59179054..59179214	hg18	UCSC Ensembl
Outer	chr17:59178894..59179347	hg18	UCSC Ensembl

Cytoband

17q23.3

Allele length

Assembly	Allele length
hg38	454
hg19	454
hg18	454

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2266185

Supporting Variants

Samples

NA18507

Known Genes

CCDC47

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)

essv4848070

Frequency

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