Variant Details

Variant: esv2002849

Internal ID

7327274

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:51652566..51652876	hg38	UCSC Ensembl
Outer	chr6:51652356..51653076	hg38	UCSC Ensembl
Inner	chr6:51517364..51517674	hg19	UCSC Ensembl
Outer	chr6:51517154..51517874	hg19	UCSC Ensembl
Inner	chr6:51625323..51625633	hg18	UCSC Ensembl
Outer	chr6:51625113..51625833	hg18	UCSC Ensembl

Cytoband

6p12.2

Allele length

Assembly	Allele length
hg38	721
hg19	721
hg18	721

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4914392

Samples

NA18507

Known Genes

PKHD1

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)

esv2002849

Frequency

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