Variant Details

Variant: essv4536103

Internal ID

7121735

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:65575261..65578223	hg38	UCSC Ensembl
Outer	chr1:65575075..65578415	hg38	UCSC Ensembl
Inner	chr1:66040944..66043906	hg19	UCSC Ensembl
Outer	chr1:66040758..66044098	hg19	UCSC Ensembl
Inner	chr1:65813532..65816494	hg18	UCSC Ensembl
Outer	chr1:65813346..65816686	hg18	UCSC Ensembl

Cytoband

1p31.3

Allele length

Assembly	Allele length
hg38	3341
hg19	3341
hg18	3341

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv1978491

Supporting Variants

Samples

NA18507

Known Genes

LEPR

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)

essv4536103

Frequency

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