Variant Details

Variant: essv4965229

Internal ID

7204175

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:179638154..179638926	hg38	UCSC Ensembl
Outer	chr1:179637994..179639094	hg38	UCSC Ensembl
Inner	chr1:179607289..179608061	hg19	UCSC Ensembl
Outer	chr1:179607129..179608229	hg19	UCSC Ensembl
Inner	chr1:177873912..177874684	hg18	UCSC Ensembl
Outer	chr1:177873752..177874852	hg18	UCSC Ensembl

Cytoband

1q25.2

Allele length

Assembly	Allele length
hg38	1101
hg19	1101
hg18	1101

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2244958

Supporting Variants

Samples

NA18507

Known Genes

TDRD5

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)

essv4965229

Frequency

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