Variant Details

Variant: essv4747015

Internal ID

6985961

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:29002986..29003043	hg38	UCSC Ensembl
Outer	chr7:29002797..29003235	hg38	UCSC Ensembl
Inner	chr7:29042602..29042659	hg19	UCSC Ensembl
Outer	chr7:29042413..29042851	hg19	UCSC Ensembl
Inner	chr7:29009127..29009184	hg18	UCSC Ensembl
Outer	chr7:29008938..29009376	hg18	UCSC Ensembl

Cytoband

7p14.3

Allele length

Assembly	Allele length
hg38	439
hg19	439
hg18	439

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2173744

Supporting Variants

Samples

NA18507

Known Genes

CPVL, LOC100506497

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)

essv4747015

Frequency

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