Variant Details

Variant: esv2141048

Internal ID

7465473

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:28557025..28557240	hg38	UCSC Ensembl
Outer	chr7:28556843..28557421	hg38	UCSC Ensembl
Inner	chr7:28596643..28596858	hg19	UCSC Ensembl
Outer	chr7:28596461..28597039	hg19	UCSC Ensembl
Inner	chr7:28563168..28563383	hg18	UCSC Ensembl
Outer	chr7:28562986..28563564	hg18	UCSC Ensembl

Cytoband

7p15.1

Allele length

Assembly	Allele length
hg38	579
hg19	579
hg18	579

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4958697

Samples

NA18507

Known Genes

CREB5

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)

esv2141048

Frequency

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