Variant Details

Variant: esv2764005

Internal ID

10378041

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr7:143117686..143205205	hg38	UCSC Ensembl
Inner	chr7:142814779..142902298	hg19	UCSC Ensembl
Inner	chr7:142524901..142612420	hg18	UCSC Ensembl

Cytoband

7q34

Allele length

Assembly	Allele length
hg38	87520
hg19	87520
hg18	87520

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6991810, essv6991814, essv6991802, essv6991812, essv6991808, essv6991819, essv6991799, essv6991806, essv6991805, essv6991818, essv6991803, essv6991809, essv6991817, essv6991804, essv6991801, essv6991816, essv6991820, essv6991813, essv6991815, essv6991807

Samples

SW_1412, SW_0505, SW_0311, SW_1167, SW_0048, SW_0073, SW_1276, SW_1043, SW_0859, SW_1194, SW_1220, SW_0339, SW_1346, SW_0004, SW_0568, SW_1248, SW_1217, SW_1087, SW_0716, SW_1203

Known Genes

PIP, TAS2R39

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2764005

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	20
Observed Complex	0
Frequency	n/a