Variant Details

Variant: essv4619529

Internal ID

7205161

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:39340746..39340810	hg38	UCSC Ensembl
Outer	chr7:39340556..39340996	hg38	UCSC Ensembl
Inner	chr7:39380345..39380409	hg19	UCSC Ensembl
Outer	chr7:39380155..39380595	hg19	UCSC Ensembl
Inner	chr7:39346870..39346934	hg18	UCSC Ensembl
Outer	chr7:39346680..39347120	hg18	UCSC Ensembl

Cytoband

7p14.1

Allele length

Assembly	Allele length
hg38	441
hg19	441
hg18	441

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2236589

Supporting Variants

Samples

NA18507

Known Genes

POU6F2

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)

essv4619529

Frequency

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