Variant Details

Variant: esv2763864

Internal ID

10377900

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:8701254..8749664	hg38	UCSC Ensembl
Inner	chr5:8701366..8749776	hg19	UCSC Ensembl
Inner	chr5:8754366..8802776	hg18	UCSC Ensembl

Cytoband

5p15.2

Allele length

Assembly	Allele length
hg38	48411
hg19	48411
hg18	48411

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7030642, essv7030664, essv7030660, essv7030651, essv7030645, essv7030640, essv7030658, essv7030661, essv7030643, essv7030659, essv7030638, essv7030662, essv7030654, essv7030649, essv7030641, essv7030655, essv7030656, essv7030653, essv7030666, essv7030648, essv7030665, essv7030636, essv7030652, essv7030644, essv7030663, essv7030637, essv7030667, essv7030650, essv7030639, essv7030647

Samples

SW_1290, SW_1192, SW_1042, SW_1407, SW_1129, SW_0099, SW_1254, SW_0869, SW_0785, SW_0185, SW_1309, SW_1127, SW_1006, SW_0789, SW_0761, SW_1465, SW_1075, SW_1438, SW_0176, SW_0165, SW_1368, SW_1275, SW_1346, SW_0814, SW_1349, SW_0673, SW_1416, SW_0009, SW_0256, SW_0627

Known Genes

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)

esv2763864

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	30
Observed Complex	0
Frequency	n/a